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Article

Testicular CFTR splice variants in patients with congenital absence of the vas deferens.

Human molecular genetics - 1 Oct 1998

Larriba S, Bassas L, Gimenez J, Ramos M D, Segura A, Nunes V, Estivill X, Casals T

Abstract excerpt

The involvement of the five thymidine (5T) variant in intron 8 of the cystic fibrosis membrane regulator (CFTR) gene in congenital bilateral absence of the vas deferens (CBAVD) phenotype has been extensively demonstrated. This variant leads to alternative splicing of the CFTR gene which results in a wild-type transcript and one without exon 9. Little is known about expression of the CFTR gene in the testis. We...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 9736775
DOI: 10.1093/hmg/7.11.1739

Genes

CFTR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Testicular CFTR splice variants in patients with congenital absence of the vas deferens.PMID 9736775Read ↗

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A T3 allele in the CFTR gene exacerbates exon 9 skipping in vas deferens and epididymal cell lines and is associated with Congenital Bilateral Absence of Vas Deferens (CBAVD).Semantic proximity Read ↗

Higher proportion of intact exon 9 CFTR mRNA in nasal epithelium compared with vas deferens.Semantic proximity Read ↗

Characterization of cystic fibrosis conductance transmembrane regulator gene mutations and IVS8 poly(T) variants in Portuguese patients with congenital absence of the vas deferens.Semantic proximity Read ↗

Variants in CFTR untranslated regions are associated with congenital bilateral absence of the vas deferens.Semantic proximity Read ↗

Frequent occurrence of the CFTR intron 8 (TG)n 5T allele in men with congenital bilateral absence of the vas deferens.Semantic proximity Read ↗

Molecular study of (TG)m(T)n polymorphisms in Iranian males with congenital bilateral absence of the vas deferens.Semantic proximity Read ↗

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