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: TNFSF11: V242I; rs754256379

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

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The Genetic Architecture of High Bone Mass.

Frontiers In Endocrinology

Gregson, Celia L CL; Duncan, Emma L EL

Publication Date: 2020

Variant appearance in text: RANKL: 724G>A

PubMed Link: 33193107

Variant Present in the following documents:

• Main text

View BVdb publication page