Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.L1388Q
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CFTR

NM_000492.4:p.L1388Q

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

Significance of CFTR gene mutations in patients with congenital aplasia of vas deferens with special regard to renal aplasia.

Schwarzer JU et al.

Andrologia, 2012

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."