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: ABCA4: 4128+1G>T

PubMed Link: 32884132

Variant Present in the following documents:

• NIHMS1630822-supplement-Supplementary_Tables.xlsx, sheet 6

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Molecular diagnosis of putative Stargardt disease by capture next generation sequencing.

Plos One

Zhang, Xiao X; Ge, Xianglian X; Shi, Wei W; Huang, Ping P; Min, Qingjie Q; Li, Minghan M; Yu, Xinping X; Wu, Yaming Y; Zhao, Guangyu G; Tong, Yi Y; Jin, Zi-Bing ZB; Qu, Jia J; Gu, Feng F

Publication Date: 2014

Variant appearance in text: ABCA4: 4128+1G>T

PubMed Link: 24763286

Variant Present in the following documents:

• Main text

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