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: APC: Y133D; rs763487503

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

Structural Basis for Tetherin Antagonism as a Barrier to Zoonotic Lentiviral Transmission.

Cell Host & Microbe

Buffalo, Cosmo Z CZ; Stürzel, Christina M CM; Heusinger, Elena E; Kmiec, Dorota D; Kirchhoff, Frank F; Hurley, James H JH; Ren, Xuefeng X

Publication Date: 2019-09-11

Variant appearance in text: APC: Y133D

PubMed Link: 31447307

Variant Present in the following documents:

• Main text

View BVdb publication page