Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.E583G
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CFTR

NM_000492.4:p.E583G

Associated Papers

The novel CFTR haplotype E583G/F508del in CFTR-related disorder.

De Paolis E et al.

Molecular Biology Reports, 2024

Disease-relevant mutations alter amino acid co-evolution networks in the second nucleotide binding domain of CFTR.

Ivey G et al.

Plos One, 2020

Requirements for efficient correction of ΔF508 CFTR revealed by analyses of evolved sequences.

Mendoza JL et al.

Cell, 2012

SPP1 promoter polymorphisms: identification of the first modifier gene for pseudoxanthoma elasticum.

Hendig D et al.

Clinical Chemistry, 2007

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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."