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: CDH1: P126R; rs746703615

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

Gene mutations distinguishing gastric from colorectal and esophageal adenocarcinomas.

Journal Of Gastrointestinal Oncology

Hoang, Tuyen T; Ganesan, Anand K AK; Hiyama, Darryl D; Dayyani, Farshid F

Publication Date: 2020-02

Variant appearance in text: CDH1: Pro126Arg

PubMed Link: 32175104

Variant Present in the following documents:

• Main text

View BVdb publication page