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: TG: S1255R; rs150204986

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

Unique autosomal recessive variant of palmoplantar keratoderma associated with hearing loss not caused by known mutations.

Anais Brasileiros De Dermatologia

Hegazi, Moustafa Abdelaal MA; Manou, Sommen S; Sakr, Hazem H; Camp, Guy Van GV

Publication Date: 2017

Variant appearance in text: TG: 3765C>A; Ser1255Arg

PubMed Link: 29267478

Variant Present in the following documents:

• Main text
• abd-92-05-s1-0154.pdf

View BVdb publication page