Publications:

MBOAT1 homozygous missense variant causes nonobstructive azoospermia.

Asian Journal Of Andrology

Wan, Yang-Yang YY; Guo, Lan L; Yao, Yao Y; Shi, Xiao-Yun XY; Jiang, Hui H; Xu, Bo B; Hua, Juan J; Zhang, Xian-Sheng XS

Publication Date: 2022

Variant appearance in text: CFTR: 1492A>G

PubMed Link: 34596601

Variant Present in the following documents:

• Main text

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Correction of mutations within the cystic fibrosis transmembrane conductance regulator by site-directed RNA editing.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Montiel-Gonzalez, Maria Fernanda MF; Vallecillo-Viejo, Isabel I; Yudowski, Guillermo A GA; Rosenthal, Joshua J C JJ

Publication Date: 2013-11-05

Variant appearance in text: CFTR: M498V

PubMed Link: 24108353

Variant Present in the following documents:

• Main text

View BVdb publication page