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

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‐generat...

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Detalles Bibliográficos
Autores principales: Shengjia, Shi, Lei, Wang, Tianwei, Wang, Hongmei, Wang, Juanzi, Shi, Sen, Qiao
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2023
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10655520/
https://www.ncbi.nlm.nih.gov/pubmed/37489040
http://dx.doi.org/10.1002/mgg3.2249

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