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L138ins Variant of the CFTR Gene in Russian Infertile Men

(1) Introduction: Pathogenic variants in the CFTR (Cystic Fibrosis Transmembrane conductance Regulator, OMIM: 602421) gene cause Cystic Fibrosis (CF, OMIM: 219700) and CF-related disorders (CF-RD), often accompanied by obstructive azoospermia due to congenital bilateral aplasia of vas deferens (CBAV...

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Detalles Bibliográficos
Autores principales: Chernykh, Vyacheslav, Sorokina, Tatyana, Sedova, Anna, Shtaut, Maria, Solovova, Olga, Marnat, Ekaterina, Adyan, Tagui, Beskorovaynaya, Tatyana, Stepanova, Anna, Shchagina, Olga, Polyakov, Aleksandr
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10379041/
https://www.ncbi.nlm.nih.gov/pubmed/37510311
http://dx.doi.org/10.3390/genes14071407