Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.E115del1
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CFTR

NM_000492.4:p.E115del1

Associated Papers

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

N-terminal CFTR missense variants severely affect the behavior of the CFTR chloride channel.

Gené GG et al.

Human Mutation, 2008

Spectrum of mutations in the CFTR gene in cystic fibrosis patients of Spanish ancestry.

Alonso MJ et al.

Annals of Human Genetics, 2007

A combined analysis of the cystic fibrosis transmembrane conductance regulator: implications for structure and disease models.

Chen JM et al.

Molecular Biology and Evolution, 2001

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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."