Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.L69H
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CFTR

NM_000492.4:p.L69H

Associated Papers

A comprehensive review of cystic fibrosis in Africa and Asia.

Abubakar Bobbo K et al.

Saudi Journal of Biological Sciences, 2023

Molecular dynamics and functional characterization of I37R-CFTR lasso mutation provide insights into channel gating activity.

Wong SL et al.

Iscience, 2022

35072004 (PubMed )
Supplement: mmc2.xlsx › Table_S1

Pharmacological chaperones improve intra-domain stability and inter-domain assembly via distinct binding sites to rescue misfolded CFTR.

Baatallah N et al.

Cellular and Molecular Life Sciences : Cmls, 2021

Co-Translational Folding of the First Transmembrane Domain of ABC-Transporter CFTR is Supported by Assembly with the First Cytosolic Domain.

Kleizen B et al.

Journal of Molecular Biology, 2021

Functional and Pharmacological Characterization of the Rare CFTR Mutation W361R.

Billet A et al.

Frontiers in Pharmacology, 2020

Epidemiology and genetics of cystic fibrosis in Asia: In preparation for the next-generation treatments.

Singh M et al.

Respirology (carlton, Vic.), 2015

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

Identification and characterization of CFTR gene mutations in Indian CF patients.

Sharma N et al.

Annals of Human Genetics, 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."