Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.E608G
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CFTR

NM_000492.4:p.E608G

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

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

Singh M et al.

Respirology (carlton, Vic.), 2015

Highest heterogeneity for cystic fibrosis: 36 mutations account for 75% of all CF chromosomes in Turkish patients.

Kilinç MO et al.

American Journal of Medical Genetics, 2002

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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."