Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.S118P
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CFTR

NM_000492.4:p.S118P

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

Function, pharmacological correction and maturation of new Indian CFTR gene mutations.

Sharma H et al.

Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society, 2015

Heterogeneous spectrum of mutations in CFTR gene from Indian patients with congenital absence of the vas deferens and their association with cystic fibrosis genetic modifiers.

Sharma H et al.

Molecular Human Reproduction, 2014

The DeltaF508 mutation disrupts packing of the transmembrane segments of the cystic fibrosis transmembrane conductance regulator.

Chen EY et al.

The Journal of Biological Chemistry, 2004

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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."