Publications:

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: R2379C; rs61751283

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

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Genetic abnormalities in biopsy-proven, adult-onset hemolytic uremic syndrome and C3 glomerulopathy.

Journal Of Molecular Medicine (Berlin, Germany)

Haydock, Ludwig L; Garneau, Alexandre P AP; Tremblay, Laurence L; Yen, Hai-Yun HY; Gao, Hanlin H; Harrisson, Raphaël R; Isenring, Paul P

Publication Date: 2022-02

Variant appearance in text: VWF: Arg2379Cys

PubMed Link: 34714369

Variant Present in the following documents:

• 109_2021_Article_2102.pdf

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Genetic variation in human drug-related genes.

Genome Medicine

Schärfe, Charlotta Pauline Irmgard CPI; Tremmel, Roman R; Schwab, Matthias M; Kohlbacher, Oliver O; Marks, Debora Susan DS

Publication Date: 2017-12-22

Variant appearance in text: VWF: 7135C>T; rs61751283

PubMed Link: 29273096

Variant Present in the following documents:

• 13073_2017_502_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page