Publications:

Diagnostic application of exome sequencing in Chinese children with suspected inherited kidney diseases.

Frontiers In Genetics

Gao, Min M; Yu, Fengling F; Dong, Rui R; Zhang, Kaihui K; Lv, Yuqiang Y; Ma, Jian J; Wang, Dong D; Zhang, Hongxia H; Gai, Zhongtao Z; Liu, Yi Y

Publication Date: 2022

Variant appearance in text: COL4A5: 1114G>T; E372X

PubMed Link: 36685964

Variant Present in the following documents:

• Main text
• fgene-13-933636.pdf

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Expanded genetic screening panel for the Ashkenazi Jewish population.

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

Baskovich, Brett B; Hiraki, Susan S; Upadhyay, Kinnari K; Meyer, Philip P; Carmi, Shai S; Barzilai, Nir N; Darvasi, Ariel A; Ozelius, Laurie L; Peter, Inga I; Cho, Judy H JH; Atzmon, Gil G; Clark, Lorraine L; Yu, Jin J; Lencz, Todd T; Pe'er, Itsik I; Ostrer, Harry H; Oddoux, Carole C

Publication Date: 2016-05

Variant appearance in text: COL4A5: E372X

PubMed Link: 26334176

Variant Present in the following documents:

• Main text

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