Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.K1351E
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CFTR

NM_000492.4:p.K1351E

Associated Papers

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

Novel mutations and polymorphisms in the CFTR gene associated with three subtypes of congenital absence of vas deferens.

Yang X et al.

Fertility and Sterility, 2015

Do common in silico tools predict the clinical consequences of amino-acid substitutions in the CFTR gene?

Dorfman R et al.

Clinical Genetics, 2010

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

Distinct spectrum of CFTR gene mutations in congenital absence of vas deferens.

Dörk T et al.

Human Genetics, 1997

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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."