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Article

Genetic findings in congenital bilateral aplasia of vas deferens patients and identification of six novel mutatations. Mutations in brief no. 138. Online.

Human mutation - 1 Jan 1998

de Meeus A, Guittard C, Desgeorges M, Carles S, Demaille J, Claustres M

Abstract excerpt

Congential bilateral aplasia of vas deferens (CBAVD), a form of male sterility, has been suggested to represent a "genital" form of cystic fibrosis (CF), as mutations in the CFTR gene have been identified in most patients with this condition. Interestingly, the 5T allele in intron 8 appeared to b...

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Source

Identifiers

PMID: 10200050
DOI: 10.1002/(SICI)1098-1004(1998)11:6<480::AID-HUMU9>3.0.CO;2-4

Genes

CFTR

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-10200050-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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