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Article

Pathogenic Variants and Genotypes of the CFTR Gene in Russian Men with Cystic Fibrosis and CBAVD Syndrome.

International journal of molecular sciences - 14 Nov 2023

Chernykh Vyacheslav, Krasovsky Stanislav, Solovova Olga, Adyan Tagui, Stepanova Anna, Marnat Ekaterina, Shtaut Maria, Sedova Anna, Sorokina Tatyana, Beskorovainaya Tatyana, Kondratyeva Elena, Shchagina Olga, Polyakov Aleksandr

Abstract excerpt

Pathogenic CFTR variants cause cystic fibrosis (CF), and CF-related disorders (CF-RD), including bilateral aplasia of the vas deferens (CBAVD). The spectrum of clinical manifestations depends on the CFTR genotype. The frequency and spectrum of the CFTR variants vary between populations and clinical groups. CFTR variants and genotypes were analyzed in Russian men with CF (n = 546) and CBAVD syndrome (n = 125)....

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 38003474
DOI: 10.3390/ijms242216287
PMCID: PMC10671388

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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