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: BBS7: G201S; rs768882262

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

Cervical small cell neuroendocrine tumor mutation profiles via whole exome sequencing.

Oncotarget

Cho, Soo Young SY; Choi, Minhye M; Ban, Hyo-Jeong HJ; Lee, Chang Hyeon CH; Park, Soojun S; Kim, HanKyeom H; Kim, Young-Sik YS; Lee, Young Seek YS; Lee, Ji-Yun JY

Publication Date: 2017-01-31

Variant appearance in text: BBS7: 601G>A; G201S

PubMed Link: 28042953

Variant Present in the following documents:

• oncotarget-08-8095-s002.xlsx, sheet 2

View BVdb publication page