Full data view for gene VWF

Information The variants shown are described using the NM_000552.3 transcript reference sequence.

56 entries on 1 page. Showing entries 1 - 56.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

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Panel size     

Owner     
+/+? 20 c.2561G>A r.(?) p.(Arg854Gln) Paternal (confirmed) EAHAD-CFDB likely pathogenic g.6143978C>T g.6034812C>T - - VWF_000054 - PubMed: Goodeve et al., 2007 - - Germline yes - - - - DNA PCR, SEQ - - VWD1 - PubMed: Goodeve et al., 2007 - F ? Italy - - - - - 1 Daniel J Hampshire
+/+? 20 c.2561G>A r.(?) p.(Arg854Gln) Maternal (confirmed) EAHAD-CFDB likely pathogenic g.6143978C>T g.6034812C>T - - VWF_000054 - PubMed: Casonato et al., 2003 - - Germline yes - - - - DNA PCR, SEQ - - VWD2 - PubMed: Casonato et al., 2003 - M ? (Italy) - - - - - 1 Daniel J Hampshire
+/. 20 c.2561G>A r.(?) p.(Arg854Gln) Parent #2 EAHAD-CFDB VUS g.6143978C>T g.6034812C>T - - VWF_000054 Functional analysis: rVWF expression in COS-7 cells PubMed: Hilbert et al., 2006 - - Germline yes - - - - DNA PCR, SEQ - - VWD2 - PubMed: Hilbert et al., 2006 - M ? France - - - - - 1 Daniel J Hampshire
+/. 20 c.2561G>A r.(?) p.(Arg854Gln) Parent #2 EAHAD-CFDB VUS g.6143978C>T g.6034812C>T - - VWF_000054 Functional analysis: rVWF expression in COS-7 cells PubMed: Jorieux et al., 2000 - - Unknown ? - - - - DNA PCR, SEQ - - VWD2 - PubMed: Jorieux et al., 2000 Individual is the first cousin of individual 00024253 F ? (France) - - - - - 1 Daniel J Hampshire
+/+? 20 c.2561G>A r.(?) p.(Arg854Gln) Parent #1 EAHAD-CFDB likely pathogenic g.6143978C>T g.6034812C>T - - VWF_000054 - PubMed: Enayat et al., 2010 - - Unknown yes - - - - DNA PCR, PCRdig, SEQ - - VWD2 - PubMed: Enayat et al., 2010 - F ? United Kingdom (Great Britain) - - - - - 1 Daniel J Hampshire
+/. 20 c.2561G>A r.(?) p.(Arg854Gln) Unknown EAHAD-CFDB VUS g.6143978C>T g.6034812C>T - - VWF_000054 Functional analysis: rVWF expression in COS-7 cells PubMed: Hilbert et al., 2004b - - Unknown ? - - - - DNA PCR, SEQ - - VWD2 - PubMed: Hilbert et al., 2004b - F ? (France) - - - - - 1 Daniel J Hampshire
+/. 20 c.2561G>A r.(?) p.(Arg854Gln) Parent #1 EAHAD-CFDB VUS g.6143978C>T g.6034812C>T - - VWF_000054 Functional analysis: rVWF expression in COS-7 cells PubMed: Hilbert et al., 2004b - - Germline yes - - - - DNA PCR, SEQ - - VWD2 - PubMed: Hilbert et al., 2004b - M ? (France) - - - - - 1 Daniel J Hampshire
+/+? 20 c.2561G>A r.(?) p.(Arg854Gln) Unknown EAHAD-CFDB likely pathogenic g.6143978C>T g.6034812C>T - - VWF_000054 - Unpublished - - Unknown ? - - - - DNA ? - - VWD2 - Unpublished - ? ? (Argentina) - - - - - 1 Daniel J Hampshire
+/+? 20 c.2561G>A r.(?) p.(Arg854Gln) Unknown EAHAD-CFDB likely pathogenic g.6143978C>T g.6034812C>T - - VWF_000054 - Unpublished - - Unknown ? - - - - DNA ? - - VWD2 - Unpublished - ? ? (Spain) - - - - - 1 Daniel J Hampshire
+/+? 20 c.2561G>A r.(?) p.(Arg854Gln) Both (homozygous) EAHAD-CFDB likely pathogenic g.6143978C>T g.6034812C>T - - VWF_000054 - PubMed: Schneppenheim et al., 1996b - - Germline yes - - - - DNA PCR, SEQ - - VWD2 - PubMed: Schneppenheim et al., 1996b - M ? (Germany) - - - - - 1 Daniel J Hampshire
+/+? 20 c.2561G>A r.(?) p.(Arg854Gln) Both (homozygous) EAHAD-CFDB likely pathogenic g.6143978C>T g.6034812C>T - - VWF_000054 - PubMed: Schneppenheim et al., 1996b - - Unknown ? - - - - DNA PCR, SEQ - - VWD2 - PubMed: Schneppenheim et al., 1996b - M ? (Germany) - - - - - 1 Daniel J Hampshire
+/+? 20 c.2561G>A r.(?) p.(Arg854Gln) Both (homozygous) EAHAD-CFDB likely pathogenic g.6143978C>T g.6034812C>T - - VWF_000054 - PubMed: Schneppenheim et al., 1996b - - Unknown ? - - - - DNA PCR, SEQ - - VWD2 - PubMed: Schneppenheim et al., 1996b - M ? (Germany) - - - - - 1 Daniel J Hampshire
+/+? 20 c.2561G>A r.(?) p.(Arg854Gln) Both (homozygous) EAHAD-CFDB likely pathogenic g.6143978C>T g.6034812C>T - - VWF_000054 - PubMed: Schneppenheim et al., 1996b - - Unknown ? - - - - DNA PCR, SEQ - - VWD2 - PubMed: Schneppenheim et al., 1996b - F ? (Germany) - - - - - 1 Daniel J Hampshire
+/+? 20 c.2561G>A r.(?) p.(Arg854Gln) Paternal (confirmed) EAHAD-CFDB likely pathogenic g.6143978C>T g.6034812C>T - - VWF_000054 - PubMed: Eikenboom et al., 1993 - - Germline yes - - - - DNA PCR, SEQ - - VWD2 - PubMed: Eikenboom et al., 1993 - F no (Netherlands) - - - - - 1 Daniel J Hampshire
+/+? 20 c.2561G>A r.(?) p.(Arg854Gln) Unknown EAHAD-CFDB likely pathogenic g.6143978C>T g.6034812C>T - - VWF_000054 - PubMed: Mazurier et al., 1994 - - Unknown ? - - - - DNA ? - - VWD2 - PubMed: Mazurier et al., 1994 - M ? (France) - - - - - 1 Daniel J Hampshire
+/+? 20 c.2561G>A r.2561g>a p.Arg854Gln Maternal (confirmed) EAHAD-CFDB likely pathogenic g.6143978C>T g.6034812C>T - - VWF_000054 - PubMed: Peerlinck et al., 1992 - - Germline yes - - - - RNA RT-PCR, SEQ - - VWD2 - PubMed: Peerlinck et al., 1992 - F ? (Belgium) - - - - - 1 Daniel J Hampshire
+/. 20 c.2561G>A r.2561g>a p.Arg854Gln Unknown EAHAD-CFDB VUS g.6143978C>T g.6034812C>T - - VWF_000054 Functional analysis: rVWF expression in COS-7 cells PubMed: Montgomery et al., 1982; PubMed: Kroner et al., 1991 - - Germline yes - - - - RNA RT-PCR, SEQ - - VWD2 - PubMed: Montgomery et al., 1982; PubMed: Kroner et al., 1991; PubMed: Kroner et al., 1996 - F no (United States) - - - - - 1 Daniel J Hampshire
+/. 20 c.2561G>A r.2561g>a p.Arg854Gln Parent #1 EAHAD-CFDB VUS g.6143978C>T g.6034812C>T - - VWF_000054 Functional analysis: rVWF expression in COS-7 cells PubMed: Cacheris et al., 1991 - - Unknown ? - - - - RNA RT-PCR, SEQ - - VWD1 - PubMed: Cacheris et al., 1991 - F ? (United States) - - - - - 1 Daniel J Hampshire
+/+? 20 c.2561G>A r.(?) p.(Arg854Gln) Paternal (inferred) EAHAD-CFDB likely pathogenic g.6143978C>T g.6034812C>T - - VWF_000054 - PubMed: Goodeve et al., 2007 - - Germline yes - - - - DNA PCR, SEQ - - VWD1 - PubMed: Goodeve et al., 2007 - F no France - - - - - 1 Daniel J Hampshire
+/. 20 c.2561G>A r.(?) p.(Arg854Gln) Paternal (confirmed) EAHAD-CFDB VUS g.6143978C>T g.6034812C>T - - VWF_000054 - PubMed: Goodeve et al., 2007 - - Germline yes - - - - DNA PCR, SEQ - - VWD1 - PubMed: Goodeve et al., 2007 - M no France - - - - - 1 Daniel J Hampshire
+/+? 20 c.2561G>A r.(?) p.(Arg854Gln) Maternal (inferred) EAHAD-CFDB likely pathogenic g.6143978C>T g.6034812C>T - - VWF_000054 - PubMed: Goodeve et al., 2007 - - Unknown yes - - - - DNA MLPA, PCR, SEQ - - VWD2 - PubMed: Goodeve et al., 2007; PubMed: Budde et al., 2008 - M no Netherlands - - - - - 1 Daniel J Hampshire
+/+? 20 c.2561G>A r.(?) p.(Arg854Gln) Paternal (confirmed) EAHAD-CFDB likely pathogenic g.6143978C>T g.6034812C>T - - VWF_000054 - PubMed: Goodeve et al., 2007 - - Germline yes - - - - DNA PCR, SEQ - - VWD1 - PubMed: Goodeve et al., 2007; PubMed: Hickson et al., 2010 - M no Germany - - - - - 1 Daniel J Hampshire
+/+? 20 c.2561G>A r.(?) p.(Arg854Gln) Unknown EAHAD-CFDB likely pathogenic g.6143978C>T g.6034812C>T - - VWF_000054 - PubMed: James et al., 2007a - - Unknown ? - - - - DNA PCR, SEQ - - VWD1 - PubMed: James et al., 2007a - ? ? Canada - - - - - 1 Daniel J Hampshire
+/+? 20 c.2561G>A r.(?) p.(Arg854Gln) Unknown EAHAD-CFDB likely pathogenic g.6143978C>T g.6034812C>T - - VWF_000054 - PubMed: James et al., 2007a - - Unknown ? - - - - DNA PCR, SEQ - - VWD1 - PubMed: James et al., 2007a - ? ? Canada - - - - - 1 Daniel J Hampshire
+/+? 20 c.2561G>A r.(?) p.(Arg854Gln) Parent #1 EAHAD-CFDB likely pathogenic g.6143978C>T g.6034812C>T - - VWF_000054 - Unpublished - - Unknown ? - - - - DNA ? - - VWD1 - Unpublished - ? ? (Spain) - - - - - 1 Daniel J Hampshire
+/+? 20 c.2561G>A r.(?) p.(Arg854Gln) Paternal (confirmed) EAHAD-CFDB likely pathogenic g.6143978C>T g.6034812C>T - - VWF_000054 - Unpublished - - Germline yes - - - - DNA ? - - VWD2 - Unpublished - ? ? (Spain) - - - - - 1 Daniel J Hampshire
+/. 20 c.2561G>A r.(?) p.(Arg854Gln) Parent #1 EAHAD-CFDB VUS g.6143978C>T g.6034812C>T - - VWF_000054 Functional analysis: rVWF expression in COS-7 cells PubMed: Jorieux et al., 2000 - - Unknown ? - - - - DNA PCR, SEQ - - VWD2 - PubMed: Jorieux et al., 2000 - F ? (France) - - - - - 1 Daniel J Hampshire
+/+? 20 c.2561G>A r.(?) p.(Arg854Gln) Paternal (confirmed) EAHAD-CFDB likely pathogenic g.6143978C>T g.6034812C>T - - VWF_000054 - PubMed: Mazurier, 1992 - - Germline ? - - - - DNA PCR, SEQ - - VWD2 - PubMed: Mazurier, 1992 - F no (France) - - - - - 1 Daniel J Hampshire
+/+? 20 c.2561G>A r.(?) p.(Arg854Gln) Both (homozygous) EAHAD-CFDB likely pathogenic g.6143978C>T g.6034812C>T - - VWF_000054 - PubMed: Mazurier, 1992 - - Germline ? - - - - DNA PCR, SEQ - - VWD2 - PubMed: Mazurier, 1992 - F yes (France) - - - - - 1 Daniel J Hampshire
+/+? 20 c.2561G>A r.(?) p.(Arg854Gln) Parent #1 EAHAD-CFDB likely pathogenic g.6143978C>T g.6034812C>T - - VWF_000054 - PubMed: Hilbert et al., 2003 - - Unknown ? - - - - DNA PCR, SEQ - - VWD2 - PubMed: Hilbert et al., 2003 - M ? (France) - - - - - 1 Daniel J Hampshire
+/+? 20 c.2561G>A r.(?) p.(Arg854Gln) Parent #1 EAHAD-CFDB likely pathogenic g.6143978C>T g.6034812C>T - - VWF_000054 - PubMed: Hilbert et al., 2003 - - Unknown ? - - - - DNA PCR, SEQ - - VWD2 - PubMed: Hilbert et al., 2003 - F ? (France) - - - - - 1 Daniel J Hampshire
+/. 20 c.2561G>A r.(?) p.(Arg854Gln) Maternal (confirmed) EAHAD-CFDB VUS g.6143978C>T g.6034812C>T - - VWF_000054 Functional analysis: rVWF expression in COS-7 cells PubMed: Hilbert et al., 2004c - - Germline yes - - - - DNA PCR, SEQ - - VWD2 - PubMed: Hilbert et al., 2004c - M ? France - - - - - 1 Daniel J Hampshire
+/+? 20 c.2561G>A r.(?) p.(Arg854Gln) Unknown EAHAD-CFDB likely pathogenic g.6143978C>T g.6034812C>T - - VWF_000054 - PubMed: Nesbitt et al., 1999 - - Germline yes - - - - DNA CSGE, PCR, SEQ - - VWD2 - PubMed: Nesbitt et al., 1999 - ? ? (United Kingdom (Great Britain)) - - - - - 1 Daniel J Hampshire
+/. - c.2561G>A r.(?) p.(Arg854Gln) Unknown - pathogenic g.6143978C>T g.6034812C>T VWF(NM_000552.3):c.2561G>A (p.R854Q), VWF(NM_000552.5):c.2561G>A (p.R854Q) - VWF_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2561G>A r.(?) p.(Arg854Gln) Unknown - pathogenic g.6143978C>T g.6034812C>T VWF(NM_000552.3):c.2561G>A (p.R854Q), VWF(NM_000552.5):c.2561G>A (p.R854Q) - VWF_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 20 c.2561G>A r.(?) p.(Arg854Gln) Unknown EAHAD-CFDB VUS g.6143978C>T g.6034812C>T - - VWF_000054 - PubMed: Borràs et al., 2017 - - Unknown ? - - - - DNA PCRm, SEQ-NG-I - - VWD1 - PubMed: Borràs et al., 2017 - F ? Spain - - - - - 1 Irene Corrales Insa
?/. 20 c.2561G>A r.(?) p.(Arg854Gln) Unknown EAHAD-CFDB VUS g.6143978C>T g.6034812C>T - - VWF_000054 - PubMed: Reynhout et al., 2019 - - Germline ? - - - - DNA SEQ, SEQ-NG - WES ID 30595372-Pat5 PubMed: Reynhout 2019 - F - - - - - - - 3 Johan den Dunnen
+?/. 20 c.2561G>A r.(?) p.(Arg854Gln) Unknown EAHAD-CFDB VUS g.6143978C>T g.6034812C>T - - VWF_000054 - PubMed: Borràs et al., 2017 - - Unknown ? - - - - DNA PCRm, SEQ-NG-I - - VWD1 - PubMed: Borràs et al., 2017 - M ? Spain - - - - - 1 Irene Corrales Insa
?/. 20 c.2561G>A r.(?) p.(Arg854Gln) Unknown EAHAD-CFDB VUS g.6143978C>T g.6034812C>T - - VWF_000054 - PubMed: Borràs et al., 2017 - - Unknown ? - - - - DNA PCRm, SEQ-NG-I - - VWD3 - PubMed: Borràs et al., 2017 - F ? Spain - - - - - 1 Irene Corrales Insa
+?/. 20 c.2561G>A r.(?) p.(Arg854Gln) Unknown EAHAD-CFDB VUS g.6143978C>T g.6034812C>T - - VWF_000054 - PubMed: Borràs et al., 2017 - - Unknown ? - - - - DNA PCRm, SEQ-NG-I - - VWD2 - PubMed: Borràs et al., 2017 Related to individual 00244487 F ? Spain - - - - - 1 Irene Corrales Insa
+?/. 20 c.2561G>A r.(?) p.(Arg854Gln) Unknown EAHAD-CFDB VUS g.6143978C>T g.6034812C>T - - VWF_000054 - PubMed: Borràs et al., 2017 - - Unknown ? - - - - DNA PCRm, SEQ-NG-I - - VWD2 - PubMed: Borràs et al., 2017 - M ? Spain - - - - - 1 Irene Corrales Insa
+?/. 20 c.2561G>A r.(?) p.(Arg854Gln) Unknown EAHAD-CFDB VUS g.6143978C>T g.6034812C>T - - VWF_000054 - PubMed: Borràs et al., 2017 - - Unknown ? - - - - DNA PCRm, SEQ-NG-I - - VWD2 - PubMed: Borràs et al., 2017 - F ? Spain - - - - - 1 Irene Corrales Insa
+?/. 20 c.2561G>A r.(?) p.(Arg854Gln) Unknown EAHAD-CFDB VUS g.6143978C>T g.6034812C>T - - VWF_000054 - PubMed: Borràs et al., 2017 - - Unknown ? - - - - DNA PCRm, SEQ-NG-I - - VWD2 - PubMed: Borràs et al., 2017 - M ? Spain - - - - - 1 Irene Corrales Insa
+?/. 20 c.2561G>A r.(?) p.(Arg854Gln) Both (homozygous) EAHAD-CFDB VUS g.6143978C>T g.6034812C>T - - VWF_000054 - PubMed: Borràs et al., 2017 - - Unknown ? - - - - DNA PCRm, SEQ-NG-I - - VWD2 - PubMed: Borràs et al., 2017 - F ? Spain - - - - - 1 Irene Corrales Insa
+/. - c.2561G>A r.(?) p.(Arg854Gln) Unknown - pathogenic g.6143978C>T g.6034812C>T VWF(NM_000552.3):c.2561G>A (p.R854Q), VWF(NM_000552.5):c.2561G>A (p.R854Q) - VWF_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 20 c.2561G>A r.(?) p.(Arg854Gln) Parent #1 other likely pathogenic g.6143978C>T g.6034812C>T - - VWF_000054 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang et al., 2020, Journal: Narang et al., 2020 - rs41276738 Germline - 1/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang et al., 2020, Journal: Narang et al., 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
+/. 20 c.2561G>A r.(?) p.(Arg854Gln) Paternal (confirmed) other pathogenic g.6143978C>T g.6034812C>T - - VWF_000054 - - - - Unknown - - - - - DNA PCR, SEQ Blood - VWD1 - - - - - - - - - - - 1 Hamideh Yadegari
+/. - c.2561G>A r.(?) p.(Arg854Gln) Both (homozygous) - pathogenic g.6143978C>T g.6034812C>T - - VWF_000054 - PubMed: Yadegari 2012 - - Germline - - - - - DNA SEQ - - VWD - PubMed: Yadegari 2012 - - - Germany - - - - - 1 Johan den Dunnen
+/. - c.2561G>A r.(?) p.(Arg854Gln) Unknown - pathogenic g.6143978C>T g.6034812C>T - - VWF_000054 - PubMed: Yadegari 2012 - - Germline - - - - - DNA SEQ - - VWD - PubMed: Yadegari 2012 - - - Germany - - - - - 1 Johan den Dunnen
+/. - c.2561G>A r.(?) p.(Arg854Gln) Parent #1 - pathogenic g.6143978C>T g.6034812C>T - - VWF_000054 - PubMed: Yadegari 2012 - - Germline - - - - - DNA SEQ - - VWD - PubMed: Yadegari 2012 - - - Germany - - - - - 1 Johan den Dunnen
?/. - c.2561G>A r.(?) p.(Arg854Gln) Unknown - VUS g.6143978C>T g.6034812C>T - - VWF_000054 - PubMed: Yadegari 2012 - - Germline - - - - - DNA SEQ - - VWD - PubMed: Yadegari 2012 - - - Germany - - - - - 1 Johan den Dunnen
?/? 20 c.2561G>A r.(?) p.(Arg854Gln) Unknown EAHAD-CFDB VUS g.6143978C>T - - - VWF_000054 Res Pract Thromb Haemost 4 (Suppl. 1), abst. PB1548 Christopherson et al., 2020 - - Unknown ? - - - - DNA PCR, SEQ - - VWD2 - Christopherson et al., 2020 Res Pract Thromb Haemost 4 (Suppl. 1), abst. PB1548 ? ? United States - - - - - 1 Pam Christopherson
?/? 20 c.2561G>A r.(?) p.(Arg854Gln) Unknown EAHAD-CFDB VUS g.6143978C>T - - - VWF_000054 Res Pract Thromb Haemost 4 (Suppl. 1), abst. PB1548 Christopherson et al., 2020 - - Unknown ? - - - - DNA PCR, SEQ - - VWD2 - Christopherson et al., 2020 Res Pract Thromb Haemost 4 (Suppl. 1), abst. PB1548 ? ? United States - - - - - 1 Pam Christopherson
?/? 20 c.2561G>A r.(?) p.(Arg854Gln) Unknown EAHAD-CFDB VUS g.6143978C>T - - - VWF_000054 Res Pract Thromb Haemost 4 (Suppl. 1), abst. PB1548 Christopherson et al., 2020 - - Unknown ? - - - - DNA PCR, SEQ - - VWD2 - Christopherson et al., 2020 Res Pract Thromb Haemost 4 (Suppl. 1), abst. PB1548 ? ? United States - - - - - 1 Pam Christopherson
?/? 20 c.2561G>A r.(?) p.(Arg854Gln) Unknown EAHAD-CFDB VUS g.6143978C>T - - - VWF_000054 Res Pract Thromb Haemost 4 (Suppl. 1), abst. PB1548 Christopherson et al., 2020 - - Unknown ? - - - - DNA PCR, SEQ - - VWD2 - Christopherson et al., 2020 Res Pract Thromb Haemost 4 (Suppl. 1), abst. PB1548 ? ? United States - - - - - 1 Pam Christopherson
+/. - c.2561G>A r.(?) p.(Arg854Gln) Unknown - pathogenic g.6143978C>T - VWF(NM_000552.3):c.2561G>A (p.R854Q), VWF(NM_000552.5):c.2561G>A (p.R854Q) - VWF_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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This version of the database is under construction. Please refer to the EAHAD Coagulation Factor Variant Databases for current listings.

This version of the database is under construction. Please refer to the EAHAD Coagulation Factor Variant Databases for current listings.

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