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Article

L138ins Variant of the CFTR Gene in Russian Infertile Men.

Genes - 7 Jul 2023

Chernykh Vyacheslav, Sorokina Tatyana, Sedova Anna, Shtaut Maria, Solovova Olga, Marnat Ekaterina, Adyan Tagui, Beskorovaynaya Tatyana, Stepanova Anna, Shchagina Olga, Polyakov Aleksandr

Abstract excerpt

(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 (CBAVD, OMIM: 277180) in male patients. The L138ins (c.413_415dup; p. (Leu138dup)) is a mild variant in the CFTR gene...

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Identifiers

PMID: 37510311
DOI: 10.3390/genes14071407
PMCID: PMC10379041

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Source receipt: pubmed, retrieved 7 Sept 2026.

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