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LOVD - Variant listings for RB1

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?/? g.160830ins4 c.2207_2208ins4 insertion 21_ex - - - - RB1_00892 - Fam439 unilateral rb somatic retinoblastoma DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
+/? g.160829C>T c.2208C>T Substitution 21 - - - nonsense RB1_01535 germline 194 bilateral rb germline leukocytes DNA unknown isolated Argentina: Buenos Aires 1 unpublished -
+/? g.160829C>T c.2208C>T Substitution 21 - - - nonsense RB1_01535 germline 194 bilateral rb germline leukocytes DNA unknown isolated Argentina: Buenos Aires 1 unpublished -
?/? g.160829C>T c.2208C>T Substitution 21_ex - - - nonsense RB1_01535 germline RB63tunesia bilateral rb germline blood DNA - familial - 1 unpublished -
?/+ g.160832del c.2209del deletion 21_ex - p.Glu737Argfs*7 - frameshift RB1_00746 unknown not provided bilateral rb germline blood DNA - - Houdayer et al. (2004) Hum Mutat 23(2): 193-202. 1 published -
?/+ g.160832del c.2209del deletion 21_ex - p.Glu737Argfs*7 - frameshift RB1_00746 unknown not provided rb germline blood DNA - - Houdayer et al. (2008) Hum Mutat 29: 975 1 published -
?/? g.160832del c.2209del deletion 21_ex - p.Glu737Argfs*7 - frameshift RB1_00746 unknown rs66644190 - unknown nd DNA - - dbSNP 1 published -
?/+ g.160832G>T c.2209G>T substitution 21_ex - p.Glu737X - nonsense RB1_00370 somatic E2159 unilateral rb somatic nd DNA hemi/homozygous isolated Lohmann - Essen 1 unpublished -
+?/? g.160833 c.2211delA Deletion 21 - p.E737fsX747 - frameshift RB1_01441 - 435 bilateral rb germline blood DNA unknown isolated Argentina: Buenos Aires 1 unpublished -
+/? g.160833delA c.2211delA Deletion 21 - - - frameshift RB1_01441 germline 435 bilateral rb germline leukocytes DNA unknown isolated Argentina: Buenos Aires 1 unpublished -
?/? g.160834G>A c.2211G>A substitution 21_ex skip exon 21 skip exon 21 - splice RB1_00021 - RTB-120 rb germline blood DNA not reported familial lp Schubert et al., 1997 1 published -
?/? g.160834G>A c.2211G>A substitution 21_ex skip exon 21 skip exon 21 - splice RB1_00021 - Fam441 unilateral rb somatic retinoblastoma DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/? g.160834G>C c.2211G>C substitution 21_ex skip exon 21 skip exon 21 - splice RB1_00948 - Fam3 bilateral rb germline nd DNA - familial Richter et al. (2003) Am J Hum Genet 72(2): 253-69. 1 published -
?/? g.160834G>C c.2211G>C substitution 21_ex skip exon 21 skip exon 21 - splice RB1_00948 - T14 bilateral rb germline blood DNA - familial Zhang et al. (2008) Hum Mutat 29: 475 1 published -
?/? g.160834G>C c.2211G>C substitution 21_ex skip exon 21 skip exon 21 - splice RB1_00948 - F7; pt# 13 bilateral retinoma germline blood DNA - familial Abouzeid et al. (2009), Mol Vis.;15:771-7 1 published -
?/? g.160835G>A c.2211+1G>A substitution 21_in altered splicing - - splice RB1_00510 - 3 bilateral rb germline blood DNA - isolated Jakubowska,et al. (2001) Hum Mutat 18(5): 459. 1 published -
?/? g.160835G>C c.2211+1G>C substitution 21_in skip exon 21 skip exon 21 - splice RB1_00316 - Yu11 bilateral rb germline retinoblastoma DNA heterozygous - Choy et al. (2002) Hum Mutat 20(5): 408. 1 published -
?/? g.160835G>C c.2211+1G>C substitution 21_in skip exon 21 skip exon 21 - splice RB1_00316 - E1874 bilateral rb germline nd DNA - isolated Lohmann - Essen 1 unpublished -
?/? g.160835G>C c.2211+1G>C substitution 21_in skip exon 21 skip exon 21 - splice RB1_00316 - not provided rb germline blood DNA - - Houdayer et al. (2008) Hum Mutat 29: 975 1 published -
?/? g.160835G>T c.2211+1G>T substitution 21_in skip exon 21 skip exon 21 - splice RB1_00233 - F3700 bilateral rb germline blood DNA - familial Houdayer et al. (2004) Hum Mutat 23(2): 193-202. 1 published -
?/? g.160835G>T c.2211+1G>T substitution 21_in skip exon 21 skip exon 21 - splice RB1_00233 - not provided bilateral rb germline blood DNA - - Houdayer et al. (2004) Hum Mutat 23(2): 193-202. 1 published -
?/? g.160835G>T c.2211+1G>T substitution 21_in skip exon 21 skip exon 21 - splice RB1_00233 - not provided - - nd DNA - familial Lohmann - Essen 1 unpublished -
?/? g.160835G>T c.2211+1G>T substitution 21_in skip exon 21 skip exon 21 - splice RB1_00233 - not provided - - nd DNA - familial Lohmann - Essen 1 unpublished -
?/? g.160835G>T c.2211+1G>T substitution 21_in skip exon 21 skip exon 21 - splice RB1_00233 - not provided - germline nd DNA - isolated Lohmann - Essen 1 unpublished -
?/? g.160835G>T c.2211+1G>T substitution 21_in skip exon 21 skip exon 21 - splice RB1_00233 - F3700 rb germline blood DNA - familial Taylor et al. (2007) Hum Mutat 28: 284 1 published -
?/? g.160835G>T c.2211+1G>T substitution 21_in skip exon 21 skip exon 21 - splice RB1_00233 - not provided rb germline blood DNA - - Houdayer et al. (2008) Hum Mutat 29: 975 1 published -
?/? g.160836dup c.2211+2dup Duplication 21_in altered splicing - - unknown RB1_02011 germline #567/2013 bilateral rb germline blood DNA unknown isolated Renieri - Siena 1 unpublished -
?/? g.160836T>C c.2211+2T>C substitution 21_in - Lossof splice donor site - splice RB1_00765 - 004-URB unilateral rb germline blood DNA - - Nichols et al. (2005) Hum Mutat 25(6): 566-74. 1 published -
?/? g.160839del c.2211+5del deletion 21_in altered splicing - - splice RB1_01338 - T8 bilateral rb germline blood DNA - familial Zhang et al. (2008) Hum Mutat 29: 475 1 published -
?/? g.160839G>A c.2211+5G>A substitution 21_in altered splicing - - splice RB1_00219 - not provided rb germline SCLC DNA - familial Weir-Thompson et al., 1991 1 published -
+?/? g.160839 c.2211+5g>a Substitution 21 - - - splice RB1_00219 - 491 bilateral rb germline blood DNA unknown isolated Argentina: Buenos Aires 1 unpublished -
+?/? g.160839G>A c.2211+5G>A Substitution 21 - - - splice RB1_00219 germline 491 bilateral rb germline leukocytes DNA unknown isolated Argentina: Buenos Aires 1 unpublished -
+/? - c.2211+5G>C Substitution 21_in - - - splice RB1_01991 germline fam-no_20001890 retinoblastoma germline blood DNA unknown isolated Dommering et al. 2014, Germany:Essen 1 published G>A, G>T and delG reported in LOVD No RNA available
?/? g.160839G>T c.2211+5G>T substitution 21_in altered splicing - - splice RB1_00375 germline E896 bilateral rb germline nd DNA hemi/homozygous isolated Lohmann - Essen 1 unpublished -
?/? g.161966del c.2212-31del deletion 21_in - variant - variant RB1_01124 - not provided no cancer - nd DNA - - dbSNP 1 published -
?/? g.161970_161981del c.2212-27_2212-16del Deletion 21_in - - - unknown RB1_01843 somatic S85195 other cancer somatic tumor DNA - - COSMIC - COSM1032 1 published -
?/? g.161973_161981del c.2212-24_2212-16del deletion 21_in - - - - RB1_01332 - not provided rb germline blood DNA - - Houdayer et al. (2008) Hum Mutat 29: 975 1 published -
?/? g.161981dupT c.2212-16dupT Duplication 21_in - - - unknown RB1_01842 somatic rs11405000 no cancer somatic nd DNA - - dbSNP 1 published -
?/? g.161981insT c.2212-16_2212-15insT insertion 21_in - variant - variant RB1_01125 - not provided no cancer - nd DNA - - dbSNP 1 published -
?/? g.161983C>G c.2212-14C>G Substitution 21_in splice - - splice RB1_01649 germline bilateral_429 bilateral rb germline blood DNA - isolated not reported - Diana Rushlow, Gallie:Toronto 1 unpublished -
?/? g.161983C>T c.2212-14C>T Substitution 21_in - - - unknown RB1_01844 somatic rs80122842 no cancer somatic nd DNA - - dbSNP 1 published -
?/? g.161984T>A c.2212-13T>A substitution 21_in altered splicing - - splice RB1_00714 - not provided bilateral rb germline nd DNA hemi/homozygous isolated Lohmann - Essen 1 unpublished -
?/? g.161984T>A c.2212-13T>A substitution 21_in altered splicing - - splice RB1_00714 - E1 bilateral rb germline blood DNA - - Zhang et al. (2008) Hum Mutat 29: 475 1 published -
?/? g.161986T>A c.2212-11T>A substitution 21_in - variant - variant RB1_01059 - G497 no cancer - blood DNA - - Lohmann et al., 1996 1 published -
?/? g.161992-g.161998 c.2212-5_2213del Deletion 21_in - Essential splice site, Coding unknown, Intronic, Splice site - splice RB1_01491 somatic NCI-H2196 other cancer somatic tumor DNA - - COSMIC - COSM13750 1 published -
?/? g.161995A>G c.2212-2A>G substitution 21_in altered splicing - - splice RB1_00354 - not provided bilateral rb germline blood DNA - familial Nichols et al. (2005) Hum Mutat 25(6): 566-74. 1 published -
?/? g.161995A>G c.2212-2A>G substitution 21_in altered splicing - - splice RB1_00354 - E2286 - germline nd DNA - isolated Lohmann - Essen 1 unpublished -
?/? g.161995A>G c.2212-2A>G substitution 21_in altered splicing - - splice RB1_00354 - Fam862 unilateral rb somatic retinoblastoma DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/? g.161995A>G c.2212-2A>G substitution 21_in altered splicing - - splice RB1_00354 - not provided rb germline blood DNA - - Houdayer et al. (2008) Hum Mutat 29: 975 1 published -
?/? g.161996G>A c.2212-1G>A substitution 21_in altered splicing - - splice RB1_00218 - RB570C bilateral rb somatic retinoblastoma DNA heterozygous isolated Dunn et al., 1989 1 published -
?/? g.161996G>A c.2212-1G>A substitution 21_in altered splicing - - splice RB1_00218 - Fam796 unilateral rb somatic retinoblastoma DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/? g.161996G>A c.2212-1G>A substitution 21_in altered splicing - - splice RB1_00218 somatic Br131X other cancer somatic tumor DNA - - COSMIC - COSM39454 1 published -
?/? g.161996G>C c.2212-1G>C substitution 21_in altered splicing - - splice RB1_00390 somatic E2848 unilateral rb somatic nd DNA hemi/homozygous isolated Lohmann - Essen 1 unpublished -
+/+ g.161996G>T c.2212-1G>T Substitution 21_in - - - splice RB1_01415 - E5286 unilateral rb somatic tumor DNA heterozygous isolated Lohmann, Germany:Essen 1 unpublished -
?/? g.161996G>T c.2212-1G>T Substitution 21_in - - - splice RB1_01415 germline #762 bilateral rb germline blood DNA unknown isolated Renieri- Siena 1 unpublished -
?/? g.161994_161995del c.2212-1_2212-2del Deletion 21_in altered splicing - - splice RB1_01794 somatic noge_uni_is_151 unilateral rb somatic tumor DNA - isolated not reported - Diana Rushlow, Gallie:Toronto 1 unpublished -
+/? g.5484 c.198dup Duplication 22 - p.P68Tfs*41 - frameshift RB1_00838 somatic 689 unilateral rb somatic Tumor DNA hemi/homozygous isolated Irene Szijan Buenos Aires Argentina, Argentina:Buenos Aires 1 published -
?/? g.161995_162110del c.2212_2325del Deletion 22_ex - p.Thr738_Arg775del - unknown RB1_01850 somatic HCC1937 other cancer somatic tumor DNA - - COSMIC - COSM35889 1 published -
?/? g.161999dup c.2214dup insertion 22_ex - - - - RB1_00851 - Fam434 bilateral rb germline nd DNA - isolated Richter et al. (2003) Am J Hum Genet 72(2): 253-69. 1 published -
?/? g.162001t> c.2216t> substitution 22_ex - - - - RB1_00850 - Fam137 bilateral rb germline nd DNA - familial Richter et al. (2003) Am J Hum Genet 72(2): 253-69. 1 published -
?/? g.162001_162002insT c.2216_2217insT Insertion 22_ex - - - frameshift RB1_01650 germline bilateral_430 bilateral rb germline blood DNA - isolated not reported - Diana Rushlow, Gallie:Toronto 1 unpublished -
?/? g.162004delA c.2220delA Deletion 22_ex - - - frameshift RB1_01651 germline bilateral_436 bilateral rb germline blood DNA - isolated not reported - Diana Rushlow, Gallie:Toronto 1 unpublished -
?/? g.162004_162012dup c.2220_2227dup Duplication 22_ex - - - unknown RB1_01690 germline ge_uni_iso_tu63 unilateral rb germline blood DNA - isolated not reported - Diana Rushlow, Gallie:Toronto 1 unpublished -
?/+ g.162009_16210del c.2227_2228del deletion 22_ex - p.Leu743Aspfs*7 - frameshift RB1_00556 unknown not provided bilateral rb germline blood DNA - isolated Nichols et al. (2005) Hum Mutat 25(6): 566-74. 1 published -
?/+ g.162012ins4 c.2227_2228ins4 insertion 22_ex - - - frameshift RB1_00571 - not provided unilateral rb somatic retinoblastoma DNA - - Nichols et al. (2005) Hum Mutat 25(6): 566-74. 1 published -
?/+ g.162013del c.2228del deletion 22_ex - p.(Leu743*) - frameshift RB1_00984 somatic E3623 unilateral rb somatic nd DNA heterozygous isolated Lohmann - Essen 1 unpublished -
?/+ g.162013T>A c.2228T>A substitution 22_ex - p.Leu743X - nonsense RB1_00980 - Fam149 unilateral rb somatic retinoblastoma DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/? g.162016T>C c.2231T>C Substitution 22_ex - p.Ile744Thr - missense RB1_02016 somatic #716 retinoblastoma somatic tumour DNA heterozygous isolated Renieri - Siena 1 unpublished -
?/+ g.162021G>T c.2236G>T substitution 22_ex - p.Glu746X - nonsense RB1_00378 - not provided bilateral rb germline blood DNA - - Houdayer et al. (2004) Hum Mutat 23(2): 193-202. 1 published -
?/+ g.162021G>T c.2236G>T substitution 22_ex - p.Glu746X - nonsense RB1_00378 - not provided bilateral rb germline blood DNA - isolated Babenko et al. (2002) Mol Biol (Mosk). 36(4):623-9. 1 published -
?/+ g.162021G>T c.2236G>T substitution 22_ex - p.Glu746X - nonsense RB1_00378 - E2721 - germline nd DNA - isolated Lohmann - Essen 1 unpublished -
?/+ g.162021G>T c.2236G>T substitution 22_ex - p.Glu746X - nonsense RB1_00378 - 90 bilateral rb germline blood DNA - isolated Sampieri et al. (2006) J Hum Genet 51: 209 1 published -
?/? g.162021_162027dup c.2236_2242dup Insertion 22_ex - p.(Glu748Glyfs*5) - frameshift RB1_02088 germline P_20140723_424 bilateral rb germline blood DNA unknown isolated Houdayer - Paris 1 unpublished -
?/? g.162022A>G c.2237A>G substitution 22_ex - p.Glu746Gly - variant RB1_01060 - not provided no cancer germline blood DNA - - Sivakumaran et al. (2005) Hum Mutat. 25(4):396-409. 1 published -
?/? g.162022_162025del c.2237_2240del Deletion 22_ex - - - frameshift RB1_01653 germline bilateral_441 bilateral rb germline blood DNA - isolated not reported - Diana Rushlow, Gallie:Toronto 1 unpublished -
?/+ g.162021_162025del c.2237_2241del deletion 22_ex - p.Glu746Glyfs*3 - frameshift RB1_00852 unknown Fam238 bilateral rb germline nd DNA - - Richter et al. (2003) Am J Hum Genet 72(2): 253-69. 1 published -
?/+ g.162021_162025del c.2237_2241del deletion 22_ex - p.Glu746Glyfs*3 - frameshift RB1_00852 unknown not provided bilateral rb germline blood DNA - isolated Nichols et al. (2005) Hum Mutat 25(6): 566-74. 1 published -
?/+ g.162022_162026del c.2237_2241del deletion 22_ex - p.Glu746Glyfs*3 - frameshift RB1_00436 germline Fam800 bilateral rb germline nd DNA - - not reported, BL Gallie - Toronto 1 unpublished -
+/+ g.162022_162026dup c.2237_2241dup Duplication 22_ex - p. Glu748Lysfs*8 - frameshift RB1_01763 germline E5823 bilateral rb germline blood DNA unknown isolated Lohmann, Germany:Essen 1 unpublished -
?/? g.162023dup c.2238dup Insertion 22_ex - p.(Glu747Argfs*4) - frameshift RB1_02089 germline P_20140723_416 bilateral rb germline blood DNA unknown isolated Houdayer - Paris 1 unpublished -
+/? - c.2239dup Duplication 22_ex - p.Glu747Glyfs*4 - frameshift RB1_01992 germline fam-no_19921653 retinoblastoma germline blood DNA unknown isolated Dommering et al. 2014, Germany:Essen 1 published -
?/? g.162024_162027dup c.2239_2242dup Insertion 22_ex - p.(Glu748Glyfs*4) - frameshift RB1_02090 germline P_20140723_418 bilateral rb germline blood DNA unknown familial Houdayer - Paris 1 unpublished -
+/? - c.2240_2241del Deletion 22_ex - p.Glu747Glyfs*3 - frameshift RB1_01993 somatic fam-no_20091192 retinoblastoma somatic blood, tumour DNA unknown isolated Dommering et al. 2014, Germany:Essen 1 published -
?/+ g.162027del c.2242del deletion 22_ex - p.Glu748Serfs*6 - frameshift RB1_00267 germline E1796 bilateral rb germline nd DNA - isolated Lohmann - Essen 1 unpublished -
?/+ g.162027G>T c.2242G>T substitution 22_ex - p.Glu748X - nonsense RB1_00010 - H69 other tumor - SCLC cell line DNA - - Kashii et al., 1994 1 published -
?/+ g.162027G>T c.2242G>T substitution 22_ex - p.Glu748X - nonsense RB1_00010 - H69 other tumor somatic SCLC cell line DNA - - Yandell et al., 1989 1 published -
?/+ g.162027G>T c.2242G>T substitution 22_ex - p.Glu748X - nonsense RB1_00010 - Fam605 bilateral rb germline nd DNA - isolated Richter et al. (2003) Am J Hum Genet 72(2): 253-69. 1 published -
?/+ g.162027G>T c.2242G>T substitution 22_ex - p.Glu748X - nonsense RB1_00010 - not provided bilateral rb germline blood DNA - isolated Nichols et al. (2005) Hum Mutat 25(6): 566-74. 1 published -
?/+ g.162027G>T c.2242G>T substitution 22_ex - p.Glu748X - nonsense RB1_00010 - not provided bilateral rb germline blood DNA - isolated Babenko et al. (2002) Mol Biol (Mosk). 36(4):623-9. 1 published -
?/+ g.162027G>T c.2242G>T substitution 22_ex - p.Glu748X - nonsense RB1_00010 - E2826 - - nd DNA - isolated Lohmann - Essen 1 unpublished -
?/+ g.162027G>T c.2242G>T substitution 22_ex - p.Glu748X - nonsense RB1_00010 - Fam661 bilateral rb germline nd DNA - familial not reported, BL Gallie - Toronto 1 unpublished -
?/? g.162027G>T c.2242G>T substitution 22_ex - p.Glu748X - nonsense RB1_00010 somatic H69 other cancer somatic nd DNA - - COSMIC - COSM868 1 published -
?/? g.162027_162030delGAGT c.2242_2245delGAGT Deletion 22_ex - - - frameshift RB1_01765 somatic ng_un_is_tu_452 unilateral rb somatic nd DNA - isolated not reported - Diana Rushlow, Gallie:Toronto 1 unpublished -
?/+ g.162028_162029dup c.2243_2244dup insertion 22_ex - p.Tyr749Serfs*6 - frameshift RB1_00369 germline E2351 unilateral rb germline nd DNA hemi/homozygous isolated Lohmann - Essen 1 unpublished -
?/+ g.162029del c.2244del deletion 22_ex - p.Glu748Aspfs*6 - frameshift RB1_00006 unknown RB-45 unilateral rb somatic retinoblastoma DNA - - Yandell et al., 1989 1 published -
?/+ g.162029insATAGAATC c.2244_2245insATAGAATC insertion 22_ex - p.Tyr749Ilefs*8 - frameshift RB1_00168 unknown E699 unilateral rb somatic retinoblastoma DNA - isolated Lohmann et al., 1997 1 published -
?/? g.162032T>A c.2247T>A Substitution 22_ex - p.(Tyr749*) - nonsense RB1_01946 unknown Supp_Tab_Mt-96 - - nd DNA - - Price et al., 2013 1 published -
?/? g.162032T>G c.2247T>G Substitution 22_ex - p.Tyr749X - nonsense RB1_01755 somatic ng_un_is_tu_434 unilateral rb somatic tumor DNA - isolated not reported - Diana Rushlow, Gallie:Toronto 1 unpublished -
?/+ g.162033dup c.2248dup insertion 22_ex - p.Asp750Glyfs*8 - frameshift RB1_00606 unknown not provided bilateral rb germline blood DNA - - Houdayer et al. (2004) Hum Mutat 23(2): 193-202. 1 published -
?/+? g.162037_162041del c.2252_2256del Deletion 22_ex - p.(Ser751Tyrfs*5) - frameshift RB1_01959 somatic E6428 unilateral rb somatic retinoblastoma DNA LOH isolated Lohmann, Germany:Essen 1 unpublished -
2901 - 3000
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Legend: [ RB1 full legend ]
Sequence variations are described basically as recommended by the Ad-Hoc Committee for Mutation Nomenclature (AHCMN), with the recently suggested additions (den Dunnen JT and Antonarakis SE [2000], Hum.Mut. 15:7-12); for a summary see Nomenclature. Coding DNA Reference Sequence, with the first base of the Met-codon counted as position 1.
Path.: Variant pathogenicity, in the format Reported/Concluded; '+' indicating the variant is pathogenic, '+?' probably pathogenic, '-' no known pathogenicity, '-?' probably no pathogenicity, '?' effect unknown. g-position: Variation at DNA level according to GenBank accession number L11910 (NCBI Genbank) cDNA change: Variation at DNA-level. If present, "Full Details" will show you the the full-length entry. Type: Type of variant at DNA level. Exon: Exon numbering. RNA change: Variation at RNA-level, (?) unknown but probably identical to DNA. Protein: Variation at protein level. RBWiki: RBWiki expected consequence type: expected consequence type at protein level, e.g. frameshift, missense RB1 DB-ID: Database IDentifier; When available, links to OMIM ID's are provided. originated_in: data on the cell of origin, either germline or somatic (mosaic mutations are of somatic origin) Patient ID: Internal reference to the patient. Phenotype: Disease phenotype, as reported in paper/by submitter, unless modified by the curator. Mut. origin: Origin of mutation Tissue: Tissue type the variant was detected in. Template: Variant detected in DNA, RNA and/or Protein. tumor-genotype: Genotype of the tumor cells family history: Occurrence of the tumor in the family Reference: Reference describing the variation, "Submitted:" indicating that the mutation was submitted directly to this database. # Reported: Number of times this case has been reported Published: Patient data is published in a paper

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