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: rs372125653

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

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Nonsynonymous variants in MYH9 and ABCA4 are the most frequent risk loci associated with nonsyndromic orofacial cleft in Taiwanese population.

Bmc Medical Genetics

Peng, Hsiu-Huei HH; Chang, Nai-Chung NC; Chen, Kuo-Ting KT; Lu, Jang-Jih JJ; Chang, Pi-Yueh PY; Chang, Shih-Cheng SC; Wu-Chou, Yah-Huei YH; Chou, Yi-Ting YT; Phang, Wanni W; Cheng, Po-Jen PJ

Publication Date: 2016-08-15

Variant appearance in text: MTHFR: S21N

PubMed Link: 27527345

Variant Present in the following documents:

• Main text
• 12881_2016_Article_322.pdf

View BVdb publication page