Compound heterozygous variants in CFTR with potentially reducing ATP‐binding ability identified in Chinese infertile brothers with isolated congenital bilateral absence of vas deferens

Compound heterozygous variants in CFTR with potentially reducing ATP‐binding ability identified in Chinese infertile brothers with isolated congenital bilateral absence of vas deferens

Abstract Background Isolated congenital bilateral absence of vas deferens (iCBAVD) in men results in obstructive azoospermia and is mainly caused by pathogenic variants in cystic fibrosis transmembrane conductance regulator (CFTR) or adhesion G protein‐coupled receptor G2 (ADGRG2). Methods The next‐...

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Bibliographic Details
Main Authors: Shi Shengjia, Wang Lei, Wang Tianwei, Wang Hongmei, Shi Juanzi, Qiao Sen
Format: Article
Language:English
Published: Wiley 2023-11-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
azoospermia
CFTR mutation
compound heterozygous variant
congenital bilateral absence of vas deferens
male infertility
Online Access:https://doi.org/10.1002/mgg3.2249

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