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: PC: A787V; rs762967386

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

Novel homozygous mutations in Pakistani families with Charcot-Marie-Tooth disease.

Bmc Medical Genomics

Kanwal, Sumaira S; Choi, Yu JIn YJ; Lim, Si On SO; Choi, Hee Ji HJ; Park, Jin Hee JH; Nuzhat, Rana R; Khan, Aneela A; Perveen, Shazia S; Choi, Byung-Ok BO; Chung, Ki Wha KW

Publication Date: 2021-06-30

Variant appearance in text: PC: 2360C>T; A787V

PubMed Link: 34193129

Variant Present in the following documents:

• 12920_2021_Article_1019.pdf

View BVdb publication page