Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.L137H
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CFTR

NM_000492.4:p.L137H

Associated Papers

Rescue of Rare CFTR Trafficking Mutants Highlights a Structural Location-Dependent Pattern for Correction.

Zacarias S et al.

International Journal of Molecular Sciences, 2023

36834620 (PubMed )
Supplement: ijms-24-03211-s001.zip › ijms-2071953-supplementary.pdf

Influence of Pathogenic Mutations on the Energetics of Translocon-Mediated Bilayer Integration of Transmembrane Helices.

Schlebach JP et al.

The Journal of Membrane Biology, 2015

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

Interhelical hydrogen bonds in the CFTR membrane domain.

Therien AG et al.

Nature Structural Biology, 2001

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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."