Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.Y563C
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CFTR

NM_000492.4:p.Y563C

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

Nucleotide binding domains of human CFTR: a structural classification of critical residues and disease-causing mutations.

Eudes R et al.

Cellular and Molecular Life Sciences : Cmls, 2005

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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."