Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.R419I
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CFTR

NM_000492.4:p.R419I

Associated Papers

Cystic fibrosis-causing variants in Chinese patients with congenital absence of the vas deferens: a cohort and meta-analysis.

Lu Y et al.

Asian Journal of Andrology, 2025

Heterogeneous spectrum of CFTR gene mutations in Chinese patients with CAVD and the dilemma of genetic blocking strategy.

Feng J et al.

Reproduction (cambridge, England), 2022

Congenital bilateral absence of the vas deferens as an atypical form of cystic fibrosis: reproductive implications and genetic counseling.

de Souza DAS et al.

Andrology, 2018

Mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) in Chinese patients with congenital bilateral absence of vas deferens.

Li H et al.

Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society, 2012

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."