Concepedia

A novel hemizygous loss-of-function mutation in ADGRG2 causes male infertility with congenital bilateral absence of the vas deferens

Huan Wu, Yang Gao, Cong Ma, Qunshan Shen, Jiajia Wang, Mingrong Lv, Chunyu Liu, Huiru Cheng, Fuxi Zhu, Shixiong Tian,

Journal of Assisted Reproduction and Genetics · 2020 · 26 citations · 26 references

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26

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

P. Naresh Kumar, Steven Henikoff, Pauline C. Ng · Nature Protocols · 2009 · 6.7K citations

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Mutations in the Cystic Fibrosis Gene in Patients with Congenital Absence of the Vas Deferens

Miguel Chillón, Teresa Casals, Bernard Mercier et al. · New England Journal of Medicine · 1995 · 967 citations · Full text

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Cystic fibrosis transmembrane conductance regulator is vital to sperm fertilizing capacity and male fertility

Wenming Xu, Qi Shi, Wen Ying Chen et al. · Proceedings of the National Academy of Sciences · 2007 · 202 citations · Full text

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Truncating Mutations in the Adhesion G Protein-Coupled Receptor G2 Gene ADGRG2 Cause an X-Linked Congenital Bilateral Absence of Vas Deferens

Olivier Patat, A. Pagin, Aurore Siegfried et al. · The American Journal of Human Genetics · 2016 · 162 citations · Full text

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Targeted Deletion of the Epididymal Receptor HE6 Results in Fluid Dysregulation and Male Infertility

Benjamin Davies, Claudia Baumann, Christiane Kirchhoff et al. · Molecular and Cellular Biology · 2004 · 159 citations · Full text

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