Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.E543A
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CFTR

NM_000492.4:p.E543A

Associated Papers

A comprehensive review of cystic fibrosis in Africa and Asia.

Abubakar Bobbo K et al.

Saudi Journal of Biological Sciences, 2023

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

Spectrum and distribution of CFTR gene mutations in asthma and chronic pancreatitis cases of North Indian population.

Muthuswamy S et al.

Gene, 2014

Molecular basis of cystic fibrosis disease: an Indian perspective.

Prasad R et al.

Indian Journal of Clinical Biochemistry : Ijcb, 2010

Heterogenous spectrum of CFTR gene mutations in Indian patients with congenital absence of vas deferens.

Sharma N et al.

Human Reproduction (oxford, England), 2009

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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."