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: APOA1: S166R; rs757899657

PubMed Link: 36413997

Variant Present in the following documents:

• mmc4.xlsx, sheet 1

View BVdb publication page

Population-based resequencing of APOA1 in 10,330 individuals: spectrum of genetic variation, phenotype, and comparison with extreme phenotype approach.

Plos Genetics

Haase, Christiane L CL; Frikke-Schmidt, Ruth R; Nordestgaard, Børge G BG; Tybjærg-Hansen, Anne A

Publication Date: 2012

Variant appearance in text: APOA1: 498C>A

PubMed Link: 23209431

Variant Present in the following documents:

• pgen.1003063.s004.pdf

View BVdb publication page