Publications:

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Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.

American Journal Of Human Genetics

Pejaver, Vikas V; Byrne, Alicia B AB; Feng, Bing-Jian BJ; Pagel, Kymberleigh A KA; Mooney, Sean D SD; Karchin, Rachel R; O'Donnell-Luria, Anne A; Harrison, Steven M SM; Tavtigian, Sean V SV; Greenblatt, Marc S MS; Biesecker, Leslie G LG; Radivojac, Predrag P; Brenner, Steven E SE; ,

Publication Date: 2022-12-01

Variant appearance in text: VWF: G1180R; rs267607332

PubMed Link: 36413997

Variant Present in the following documents:

• mmc4.xlsx, sheet 1

View BVdb publication page

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Structures of VWF tubules before and after concatemerization reveal a mechanism of disulfide bond exchange.

Blood

Anderson, Jacob R JR; Li, Jing J; Springer, Timothy A TA; Brown, Alan A

Publication Date: 2022-09-22

Variant appearance in text: VWF: G1180R

PubMed Link: 35776905

Variant Present in the following documents:

• bloodBLD2022016467-suppl1.pdf
• 10.1182-2022016467_bloodbld2022016467-suppl1.pdf

View BVdb publication page

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Laboratory variability in the diagnosis of type 2 VWD variants.

Journal Of Thrombosis And Haemostasis : Jth

DiGiandomenico, Stefanie S; Christopherson, Pamela A PA; Haberichter, Sandra L SL; Abshire, Thomas C TC; Montgomery, Robert R RR; Flood, Veronica H VH; ,

Publication Date: 2021-01

Variant appearance in text: VWF: G1180R

PubMed Link: 33049112

Variant Present in the following documents:

• Main text

View BVdb publication page

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The Biological Significance of Multi-copy Regions and Their Impact on Variant Discovery.

Genomics, Proteomics & Bioinformatics

Sun, Jing J; Zhang, Yanfang Y; Wang, Minhui M; Guan, Qian Q; Yang, Xiujia X; Ou, Jin Xia JX; Yan, Mingchen M; Wang, Chengrui C; Zhang, Yan Y; Li, Zhi-Hao ZH; Lan, Chunhong C; Mao, Chen C; Zhou, Hong-Wei HW; Hao, Bingtao B; Zhang, Zhenhai Z

Publication Date: 2020-10

Variant appearance in text: VWF: 3538G>A; Gly1180Arg

PubMed Link: 32827758

Variant Present in the following documents:

• mmc12.xlsx, sheet 1

View BVdb publication page

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Comparison of type I, type III and type VI collagen binding assays in diagnosis of von Willebrand disease.

Journal Of Thrombosis And Haemostasis : Jth

Flood, V H VH; Gill, J C JC; Christopherson, P A PA; Wren, J S JS; Friedman, K D KD; Haberichter, S L SL; Hoffmann, R G RG; Montgomery, R R RR

Publication Date: 2012-07

Variant appearance in text: VWF: G1180R

PubMed Link: 22507643

Variant Present in the following documents:

• Main text

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The molecular basis of von Willebrand disease: the under investigated, the unexpected and the overlooked.

Haematologica

Hampshire, Daniel J DJ; Goodeve, Anne C AC

Publication Date: 2011-06

Variant appearance in text: VWF: 3538G>A

PubMed Link: 21632843

Variant Present in the following documents:

• Main text

View BVdb publication page

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