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: HMCN1: S3501L; rs1378615482

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

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Mutation screening in genes known to be responsible for Retinitis Pigmentosa in 98 Small Han Chinese Families.

Scientific Reports

Huang, Lulin L; Zhang, Qi Q; Huang, Xin X; Qu, Chao C; Ma, Shi S; Mao, Yao Y; Yang, Jiyun J; Li, You Y; Li, Yuanfeng Y; Tan, Chang C; Zhao, Peiquan P; Yang, Zhenglin Z

Publication Date: 2017-05-16

Variant appearance in text: HMCN1: Ser3501Leu

PubMed Link: 28512305

Variant Present in the following documents:

• Main text
• 41598_2017_Article_963.pdf

View BVdb publication page