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: P358S; rs201125422

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

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Molecular analysis of the APC and MUTYH genes in Galician and Catalonian FAP families: a different spectrum of mutations?

Bmc Medical Genetics

Gómez-Fernández, Nuria N; Castellví-Bel, Sergi S; Fernández-Rozadilla, Ceres C; Balaguer, Francesc F; Muñoz, Jenifer J; Madrigal, Irene I; Milà, Montserrat M; Graña, Begoña B; Vega, Ana A; Castells, Antoni A; Carracedo, Angel A; Ruiz-Ponte, Clara C

Publication Date: 2009-06-16

Variant appearance in text: PC: 1072C>T

PubMed Link: 19531215

Variant Present in the following documents:

• Main text
• 1471-2350-10-57.pdf

View BVdb publication page