Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.H139Q
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CFTR

NM_000492.4:p.H139Q

Associated Papers

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

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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."