Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.E257K
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CFTR

NM_000492.4:p.E257K

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

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

A new compound heterozygous CFTR mutation in a Chinese family with cystic fibrosis.

Xie Y et al.

The Clinical Respiratory Journal, 2017

Comprehensive screening of chymotrypsin C (CTRC) gene in tropical calcific pancreatitis identifies novel variants.

Paliwal S et al.

Gut, 2013

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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."