Publications:

A novel statistical method for interpreting the pathogenicity of rare variants.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Wang, Jun J; Liu, Hehe H; Bertrand, Renae Elaine RE; Sarrion-Perdigones, Alejandro A; Gonzalez, Yezabel Y; Venken, Koen J T KJT; Chen, Rui R

Publication Date: 2021-01

Variant appearance in text: USH2A: 8603delA; N2868fs

PubMed Link: 32884132

Variant Present in the following documents:

• NIHMS1630822-supplement-Supplementary_Tables.xlsx, sheet 8

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Targeted exome sequencing identified novel USH2A mutations in Usher syndrome families.

Plos One

Huang, Xiu-Feng XF; Xiang, Ping P; Chen, Jie J; Xing, Dong-Jun DJ; Huang, Na N; Min, Qingjie Q; Gu, Feng F; Tong, Yi Y; Pang, Chi-Pui CP; Qu, Jia J; Jin, Zi-Bing ZB

Publication Date: 2013

Variant appearance in text: USH2A: 8602delA

PubMed Link: 23737954

Variant Present in the following documents:

• Main text
• pone.0063832.pdf

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