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: 8483delC; S2828fs

PubMed Link: 32884132

Variant Present in the following documents:

• NIHMS1630822-supplement-Supplementary_Tables.xlsx, sheet 8

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Novel USH2A compound heterozygous mutations cause RP/USH2 in a Chinese family.

Molecular Vision

Liu, Xiaowen X; Tang, Zhaohui Z; Li, Chang C; Yang, Kangjuan K; Gan, Guanqi G; Zhang, Zibo Z; Liu, Jingyu J; Jiang, Fagang F; Wang, Qing Q; Liu, Mugen M

Publication Date: 2010-03-17

Variant appearance in text: N/A

PubMed Link: 20309401

Variant Present in the following documents:

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Identification of five novel mutations in the long isoform of the USH2A gene in Chinese families with Usher syndrome type II.

Molecular Vision

Dai, Hanjun H; Zhang, Xiaohui X; Zhao, Xin X; Deng, Ting T; Dong, Bing B; Wang, Jingzhao J; Li, Yang Y

Publication Date: 2008

Variant appearance in text: USH2A: 8483delC

PubMed Link: 19023448

Variant Present in the following documents:

• Main text
• mv-v14-2067.pdf

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