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LOVD - Variant listings for RB1

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978 public entries
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?/+ g.59683C>T c.751C>T substitution 08_ex - p.Arg251X - nonsense RB1_00062 - CU033 bilateral rb germline blood DNA - familial Alonso et al. (2005) Hum Mutat 25: 99 1 published -
?/+ g.59683C>T c.751C>T substitution 08_ex - p.Arg251X - nonsense RB1_00062 - RB18 unilateral rb - retinoblastoma DNA - - de Andrade et al. (2006) Cancer Genet Cytogenet 167: 43 1 published -
?/+ g.59683C>T c.751C>T substitution 08_ex - p.Arg251X - nonsense RB1_00062 - 33 bilateral rb - retinoblastoma DNA - - Van Orsouw et al. (1996) Hum Mol Genet 5: 755 1 published -
?/+ g.59683C>T c.751C>T substitution 08_ex - p.Arg251X - nonsense RB1_00062 - T34 unilateral rb - retinoblastoma DNA - isolated Babenko et al. (2002) Mol Biol (Mosk) 36: 777 1 published -
?/+ g.59683C>T c.751C>T substitution 08_ex - p.Arg251X - nonsense RB1_00062 - F5136 rb germline blood DNA - familial Taylor et al. (2007) Hum Mutat 28: 284 1 published -
?/+ g.59683C>T c.751C>T substitution 08_ex - p.Arg251X - nonsense RB1_00062 - 6 bilateral rb germline blood DNA - isolated Abouzeid et al. (2007) Mol Vis 13: 1740 1 published -
?/+ g.59683C>T c.751C>T substitution 08_ex - p.Arg251X - nonsense RB1_00062 - 7 bilateral rb germline blood DNA - familial Abouzeid et al. (2007) Mol Vis 13: 1740 1 published -
?/? g.59683C>T c.751C>T
    + c.1333C>T		 substitution 08_ex - p.Arg251X - nonsense RB1_00062 germline E579 bilateral rb germline tumor DNA heterozygous familial Lohmann - Essen, Germany:Essen 1 unpublished -
?/? g.59683C>T c.751C>T substitution 08_ex - p.Arg251X - nonsense RB1_00062 somatic Patient 1 unilateral rb somatic tumor DNA - - Kumaramanickavel et al., (2003), J Genet.82(1-2):39-44. 1 published -
?/? g.59683C>T c.751C>T substitution 08_ex - p.Arg251X - nonsense RB1_00062 germline #4 bilateral rb germline blood DNA - isolated Seo et al., 2012 1 published -
?/? g.59683C>T c.751C>T substitution 08_ex - p.Arg251X - nonsense RB1_00062 somatic #154/2013 unilateral rb somatic tumour DNA heterozygous isolated Renieri - Siena 1 unpublished -
+/? g.59683C>T c.751C>T substitution 08_ex - p.Arg251X - nonsense RB1_00062 unknown Tab_1_3 retinoblastoma unknown blood DNA heterozygous isolated Ming-yan He et al. 2014 Mol.vis.: 20:545-52 1 published -
+/? g.59683C>T c.751C>T substitution 08_ex - p.Arg251X - nonsense RB1_00062 germline RB15 bilateral rb germline blood DNA - isolated Malaysia:Kuala Lumpur 1 unpublished -
?/+ g.59695C>T c.763C>T substitution 08_ex - p.Arg255X - nonsense RB1_00063 - RB197 rb germline blood DNA not reported familial Blanquet et al., 1994 1 published -
?/+ g.59695C>T c.763C>T substitution 08_ex - p.Arg255X - nonsense RB1_00063 - RB431 bilateral rb germline blood DNA not reported - Blanquet et al., 1994 1 published -
?/+ g.59695C>T c.763C>T substitution 08_ex - p.Arg255X - nonsense RB1_00063 - RB297 rb germline blood DNA not reported familial Blanquet et al., 1995 1 published -
?/+ g.59695C>T c.763C>T substitution 08_ex - p.Arg255X - nonsense RB1_00063 - RB181 rb germline blood DNA not reported familial Blanquet et al., 1995 1 published -
?/+ g.59695C>T c.763C>T substitution 08_ex - p.Arg255X - nonsense RB1_00063 - RB11 bilateral rb germline blood DNA not reported - Blanquet et al., 1995 1 published -
?/+ g.59695C>T c.763C>T substitution 08_ex - p.Arg255X - nonsense RB1_00063 - RB123 bilateral rb germline blood DNA not reported - Blanquet et al., 1995 1 published -
?/+ g.59695C>T c.763C>T substitution 08_ex - p.Arg255X - nonsense RB1_00063 - RB281 bilateral rb germline blood DNA not reported - Blanquet et al., 1995 1 published -
?/+ g.59695C>T c.763C>T substitution 08_ex - p.Arg255X - nonsense RB1_00063 - Nidp bilateral rb germline blood DNA not reported - Cowell et al., 1994 1 published -
?/+ g.59695C>T c.763C>T substitution 08_ex - p.Arg255X - nonsense RB1_00063 - G420 bilateral rb germline blood DNA - isolated Lohmann et al., 1996 1 published -
?/+ g.59695C>T c.763C>T substitution 08_ex - p.Arg255X - nonsense RB1_00063 - E787T unilateral rb somatic retinoblastoma DNA - isolated Klutz et al ., 1999 1 published -
?/+ g.59695C>T c.763C>T substitution 08_ex - p.Arg255X - nonsense RB1_00063 - RB-190 bilateral rb germline blood DNA - isolated Mateu et al., 1997 1 published -
?/+ g.59695C>T c.763C>T substitution 08_ex - p.Arg255X - nonsense RB1_00063 - RB25 unilateral rb germline retinoblastoma DNA heterozygous isolated Kiran et al. (2003) Hum Mutat 22(4): 339. 1 published -
?/+ g.59695C>T c.763C>T substitution 08_ex - p.Arg255X - nonsense RB1_00063 - RB56 bilateral rb germline blood DNA - familial Kiran et al. (2003) Hum Mutat 22(4): 339. 1 published -
?/+ g.59695C>T c.763C>T substitution 08_ex - p.Arg255X - nonsense RB1_00063 - Fam348 bilateral rb germline nd DNA - isolated Richter et al. (2003) Am J Hum Genet 72(2): 253-69. 1 published -
?/+ g.59695C>T c.763C>T substitution 08_ex - p.Arg255X - nonsense RB1_00063 - Fam415 bilateral rb germline nd DNA - isolated Richter et al. (2003) Am J Hum Genet 72(2): 253-69. 1 published -
?/+ g.59695C>T c.763C>T substitution 08_ex - p.Arg255X - nonsense RB1_00063 - Fam627 bilateral rb germline nd DNA - isolated Richter et al. (2003) Am J Hum Genet 72(2): 253-69. 1 published -
?/+ g.59695C>T c.763C>T substitution 08_ex - p.Arg255X - nonsense RB1_00063 - JA193 bilateral rb germline blood DNA - isolated Alonso et al. (2001) Hum Mutat 17(5): 412-22. 1 published -
?/+ g.59695C>T c.763C>T substitution 08_ex - p.Arg255X - nonsense RB1_00063 - not provided bilateral rb germline blood DNA - - Houdayer et al. (2004) Hum Mutat 23(2): 193-202. 1 published -
?/+ g.59695C>T c.763C>T substitution 08_ex - p.Arg255X - nonsense RB1_00063 - not provided unilateral rb somatic retinoblastoma DNA - isolated Nichols et al. (2005) Hum Mutat 25(6): 566-74. 1 published -
?/+ g.59695C>T c.763C>T substitution 08_ex - p.Arg255X - nonsense RB1_00063 - E637 unilateral rb somatic nd DNA hemi/homozygous isolated Lohmann - Essen 1 unpublished -
?/+ g.59695C>T c.763C>T substitution 08_ex - p.Arg255X - nonsense RB1_00063 - E5217 - - nd DNA - familial Lohmann - Essen 1 unpublished -
?/+ g.59695C>T c.763C>T substitution 08_ex - p.Arg255X - nonsense RB1_00063 - E4629 bilateral rb germline nd DNA - isolated Lohmann - Essen 1 unpublished -
?/+ g.59695C>T c.763C>T substitution 08_ex - p.Arg255X - nonsense RB1_00063 - E1465 unilateral rb somatic nd DNA hemi/homozygous isolated Lohmann - Essen 1 unpublished -
?/+ g.59695C>T c.763C>T substitution 08_ex - p.Arg255X - nonsense RB1_00063 - not provided bilateral rb somatic nd DNA heterozygous isolated Lohmann - Essen 1 unpublished -
?/+ g.59695C>T c.763C>T substitution 08_ex - p.Arg255X - nonsense RB1_00063 - E1851 bilateral rb germline nd DNA - isolated Lohmann - Essen 1 unpublished -
?/+ g.59695C>T c.763C>T substitution 08_ex - p.Arg255X - nonsense RB1_00063 - E2224 bilateral rb germline nd DNA - isolated Lohmann - Essen 1 unpublished -
?/+ g.59695C>T c.763C>T substitution 08_ex - p.Arg255X - nonsense RB1_00063 - E2662 unilateral rb somatic nd DNA hemi/homozygous isolated Lohmann - Essen 1 unpublished -
?/+ g.59695C>T c.763C>T substitution 08_ex - p.Arg255X - nonsense RB1_00063 - not provided - - nd DNA - isolated Lohmann - Essen 1 unpublished -
?/+ g.59695C>T c.763C>T substitution 08_ex - p.Arg255X - nonsense RB1_00063 - E5619 bilateral rb germline nd DNA - familial Lohmann - Essen 1 unpublished -
?/+ g.59695C>T c.763C>T substitution 08_ex - p.Arg255X - nonsense RB1_00063 - E4159 unilateral rb somatic nd DNA hemi/homozygous isolated Lohmann - Essen 1 unpublished -
?/+ g.59695C>T c.763C>T substitution 08_ex - p.Arg255X - nonsense RB1_00063 - not provided unilateral rb somatic retinoblastoma DNA heterozygous isolated Lohmann - Essen 1 unpublished -
?/+ g.59695C>T c.763C>T substitution 08_ex - p.Arg255X - nonsense RB1_00063 - not provided unilateral rb somatic retinoblastoma DNA heterozygous isolated Lohmann - Essen 1 unpublished -
?/+ g.59695C>T c.763C>T substitution 08_ex - p.Arg255X - nonsense RB1_00063 - Fam442 unilateral rb somatic retinoblastoma DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/+ g.59695C>T c.763C>T substitution 08_ex - p.Arg255X - nonsense RB1_00063 - Fam815 unilateral rb somatic retinoblastoma DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/+ g.59695C>T c.763C>T substitution 08_ex - p.Arg255X - nonsense RB1_00063 - Fam650 unilateral rb germline nd DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/+ g.59695C>T c.763C>T substitution 08_ex - p.Arg255X - nonsense RB1_00063 - Fam628 bilateral rb somatic nd DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/+ g.59695C>T c.763C>T substitution 08_ex - p.Arg255X - nonsense RB1_00063 - 13 bilateral rb - retinoblastoma DNA - - Van Orsouw et al. (1996) Hum Mol Genet 5: 755 1 published -
?/+ g.59695C>T c.763C>T substitution 08_ex - p.Arg255X - nonsense RB1_00063 - F5088 rb germline blood DNA - familial Taylor et al. (2007) Hum Mutat 28: 284 1 published -
?/+ g.59695C>T c.763C>T substitution 08_ex - p.Arg255X - nonsense RB1_00063 - F2573 rb germline blood DNA - familial Taylor et al. (2007) Hum Mutat 28: 284 1 published -
?/+ g.59695C>T c.763C>T substitution 08_ex - p.Arg255X - nonsense RB1_00063 - 33 bilateral rb germline blood DNA - isolated Abouzeid et al. (2007) Mol Vis 13: 1740 1 published -
?/+ g.59695C>T c.763C>T substitution 08_ex - p.Arg255X - nonsense RB1_00063 - 34 bilateral rb germline blood DNA - isolated Abouzeid et al. (2007) Mol Vis 13: 1740 1 published -
?/? g.59695C>T c.763C>T substitution 08_ex - p.Arg255X - nonsense RB1_00063 - 22 361 bilateral rb unknown nd DNA unknown isolated Munier - Lausanne 1 - Mutation was not found in blood of parents and brother
?/? g.59695C>T c.763C>T substitution 08_ex - p.Arg255X - nonsense RB1_00063 unknown 22 361 bilateral rb - nd DNA - isolated Munier - Lausanne 1 - no mutation was found in parents and brother
?/? g.59695C>T c.763C>T substitution 08_ex - p.Arg255X - nonsense RB1_00063 germline RB41tunesia bilateral rb germline blood DNA - isolated - 1 unpublished -
?/? g.59695C>T c.763C>T substitution 08_ex - p.Arg255X - nonsense RB1_00063 germline #5 bilateral rb germline blood DNA - isolated Seo et al., 2012 1 published -
?/? g.59695C>T c.763C>T substitution 08_ex - p.Arg255X - nonsense RB1_00063 germline #6 bilateral rb germline blood DNA - isolated Seo et al., 2012 1 published -
?/+ g.59701C>T c.769C>T substitution 08_ex - p.Gln257X - nonsense RB1_00979 - Fam20 bilateral rb germline nd DNA - isolated Richter et al. (2003) Am J Hum Genet 72(2): 253-69. 1 published -
?/+ g.59701C>T c.769C>T substitution 08_ex - p.Gln257X - nonsense RB1_00979 - Fam872 bilateral rb germline nd DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/+ g.59701C>T c.769C>T substitution 08_ex - p.Gln257X - nonsense RB1_00979 - 0713 bilateral rb germline blood DNA - isolated Alonso et al. (2005) Hum Mutat 25: 99 1 published -
?/+ g.59728C>T c.796C>T substitution 08_ex - p.Gln266X - nonsense RB1_00067 - G392 bilateral rb germline blood DNA - isolated Lohmann et al., 1996 1 published -
?/+ g.59728C>T c.796C>T substitution 08_ex - p.Gln266X - nonsense RB1_00067 - Fam309 bilateral rb germline blood DNA - familial Richter et al. (2003) Am J Hum Genet 72(2): 253-69. 1 published -
?/+ g.59728C>T c.796C>T substitution 08_ex - p.Gln266X - nonsense RB1_00067 - RB-12 bilateral rb germline blood DNA - isolated - 1 published -
?/? g.61788C>T c.920C>T substitution 09_ex - p.Thr307Ile Thr307Ile missense RB1_00395 - Fam171 unilateral rb germline nd DNA - isolated Richter et al. (2003) Am J Hum Genet 72(2): 253-69. 1 published Tumor showed hetero Ser618X and hetero Thr307Iso. Blood showed only Thr307Iso.
?/? g.61788C>T c.920C>T substitution 09_ex - p.Thr307Ile Thr307Ile missense RB1_00395 - 3u unilateral rb germline blood DNA - familial lp - 1 published -
?/? g.61788C>T c.920C>T substitution 09_ex - p.Thr307Ile Thr307Ile missense RB1_00395 - RB-29 unilateral rb germline blood DNA - isolated Parsam et al. (2009) J Genet. 2009 Dec;88(4):517-27. 1 published -
?/? g.61788C>T c.920C>T substitution 09_ex - p.Thr307Ile Thr307Ile missense RB1_00395 - 836 unilateral rb - blood DNA - - - 1 - Hetero Thr307Iso in blood; no tumor available. Unaffected mother also carries this change. Previously encountered in another lab in three unaffected relatives of an isolated uni proband.
+/? g.61788C>T c.920C>T substitution 09_ex - p.Thr307Ile Thr307Ile missense RB1_00395 unknown Tab_1_26 retinoblastoma unknown blood DNA heterozygous isolated Ming-yan He et al. 2014 Mol.vis.: 20:545-52 1 published -
?/? g.64219C>T c.940-111C>T substitution 09_in - variant - variant RB1_01104 - not provided no cancer - nd DNA - - dbSNP 1 published -
?/+ g.64348C>T c.958C>T substitution 10_ex - p.Arg320X - nonsense RB1_00072 - not provided - germline blood DNA not reported - Cowell et al., 1994 1 published -
?/+ g.64348C>T c.958C>T substitution 10_ex - p.Arg320X - nonsense RB1_00072 - GOS559 unilateral rb - retinoblastoma DNA - - Hogg et al., 1993 1 published -
?/+ g.64348C>T c.958C>T substitution 10_ex - p.Arg320X - nonsense RB1_00072 - BB17 rb germline blood DNA not reported familial Liu et al., 1995 1 published -
?/+ g.64348C>T c.958C>T substitution 10_ex - p.Arg320X - nonsense RB1_00072 - M3293 unilateral rb somatic retinoblastoma DNA - isolated Lohmann et al., 1997 1 published -
?/+ g.64348C>T c.958C>T substitution 10_ex - p.Arg320X - nonsense RB1_00072 - E571T unilateral rb somatic retinoblastoma DNA - isolated Lohmann et al., 1997 1 published -
?/+ g.64348C>T c.958C>T substitution 10_ex - p.Arg320X - nonsense RB1_00072 - E604T unilateral rb somatic retinoblastoma DNA - isolated Lohmann et al., 1997 1 published -
?/+ g.64348C>T c.958C>T substitution 10_ex - p.Arg320X - nonsense RB1_00072 - E629T unilateral rb somatic retinoblastoma DNA - isolated Lohmann et al., 1997 1 published -
?/+ g.64348C>T c.958C>T substitution 10_ex - p.Arg320X - nonsense RB1_00072 - E673 unilateral rb germline blood DNA - isolated Lohmann et al., 1997 1 published -
?/+ g.64348C>T c.958C>T substitution 10_ex - p.Arg320X - nonsense RB1_00072 - G372 bilateral rb germline blood DNA - isolated Lohmann et al., 1996 1 published -
?/+ g.64348C>T c.958C>T substitution 10_ex - p.Arg320X - nonsense RB1_00072 - G371 rb germline blood DNA - familial Lohmann et al., 1996 1 published -
?/+ g.64348C>T c.958C>T substitution 10_ex - p.Arg320X - nonsense RB1_00072 - G432 bilateral rb germline blood DNA - isolated Lohmann et al., 1996 1 published -
?/+ g.64348C>T c.958C>T substitution 10_ex - p.Arg320X - nonsense RB1_00072 - M1317 bilateral rb germline blood DNA - isolated Lohmann et al., 1996 1 published -
?/+ g.64348C>T c.958C>T substitution 10_ex - p.Arg320X - nonsense RB1_00072 - E605 bilateral rb germline inherited blood DNA - familial Yilmaz et al., 1998 1 published -
?/+ g.64348C>T c.958C>T substitution 10_ex - p.Arg320X - nonsense RB1_00072 - E786T unilateral rb somatic retinoblastoma DNA - isolated Klutz et al ., 1999 1 published -
?/+ g.64348C>T c.958C>T substitution 10_ex - p.Arg320X - nonsense RB1_00072 - E1093T unilateral rb somatic retinoblastoma DNA - isolated Klutz et al ., 1999 1 published -
?/+ g.64348C>T c.958C>T substitution 10_ex - p.Arg320X - nonsense RB1_00072 - E1106T unilateral rb somatic retinoblastoma DNA - isolated Klutz et al ., 1999 1 published -
?/+ g.64348C>T c.958C>T substitution 10_ex - p.Arg320X - nonsense RB1_00072 - #452 bilateral rb somatic blood DNA not reported familial Sippel et al., 1998 1 published -
?/+ g.64348C>T c.958C>T substitution 10_ex - p.Arg320X - nonsense RB1_00072 - HC6 unilateral rb germline retinoblastoma DNA - isolated Braggio et al. (2004) J Clin Pathol 57(6): 585-90. 1 published -
?/+ g.64348C>T c.958C>T substitution 10_ex - p.Arg320X - nonsense RB1_00072 - RB27 unilateral rb germline retinoblastoma DNA homozygous - Kiran et al. (2003) Hum Mutat 22(4): 339. 1 published -
?/+ g.64348C>T c.958C>T substitution 10_ex - p.Arg320X - nonsense RB1_00072 - Fam169 bilateral rb somatic nd DNA - isolated Richter et al. (2003) Am J Hum Genet 72(2): 253-69. 1 published -
?/+ g.64348C>T c.958C>T substitution 10_ex - p.Arg320X - nonsense RB1_00072 - Fam17 bilateral rb germline nd DNA - isolated Richter et al. (2003) Am J Hum Genet 72(2): 253-69. 1 published -
?/+ g.64348C>T c.958C>T substitution 10_ex - p.Arg320X - nonsense RB1_00072 - Fam175 bilateral rb germline nd DNA - isolated Richter et al. (2003) Am J Hum Genet 72(2): 253-69. 1 published -
?/+ g.64348C>T c.958C>T substitution 10_ex - p.Arg320X - nonsense RB1_00072 - Fam22 bilateral rb germline nd DNA - isolated Richter et al. (2003) Am J Hum Genet 72(2): 253-69. 1 published -
?/+ g.64348C>T c.958C>T substitution 10_ex - p.Arg320X - nonsense RB1_00072 - Fam28 bilateral rb germline nd DNA - isolated Richter et al. (2003) Am J Hum Genet 72(2): 253-69. 1 published -
?/+ g.64348C>T c.958C>T substitution 10_ex - p.Arg320X - nonsense RB1_00072 - Fam231 bilateral rb germline nd DNA - familial Richter et al. (2003) Am J Hum Genet 72(2): 253-69. 1 published -
?/+ g.64348C>T c.958C>T substitution 10_ex - p.Arg320X - nonsense RB1_00072 - Fam232 bilateral rb germline nd DNA - familial Richter et al. (2003) Am J Hum Genet 72(2): 253-69. 1 published -
?/+ g.64348C>T c.958C>T substitution 10_ex - p.Arg320X - nonsense RB1_00072 - Fam356 bilateral rb germline nd DNA - isolated Richter et al. (2003) Am J Hum Genet 72(2): 253-69. 1 published -
?/+ g.64348C>T c.958C>T substitution 10_ex - p.Arg320X - nonsense RB1_00072 - Fam555 bilateral rb germline nd DNA - isolated Richter et al. (2003) Am J Hum Genet 72(2): 253-69. 1 published -
?/+ g.64348C>T c.958C>T substitution 10_ex - p.Arg320X - nonsense RB1_00072 - Fam618 bilateral rb germline nd DNA - - Richter et al. (2003) Am J Hum Genet 72(2): 253-69. 1 published -
101 - 200
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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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