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: RYR1: N1346K; rs777049924

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

Case Report: A Novel Pathomechanism in PEComa by the Loss of Heterozygosity of TP53.

Frontiers In Oncology

Butz, Henriett H; Lövey, József J; Szentkereszty, Márton M; Bozsik, Anikó A; Tóth, Erika E; Patócs, Attila A

Publication Date: 2022

Variant appearance in text: RYR1: 4038C>A; N1346K; rs777049924

PubMed Link: 35419288

Variant Present in the following documents:

• Table_1.xlsx, sheet 1

View BVdb publication page