Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.F508I
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CFTR

NM_000492.4:p.F508I

Associated Papers

Comprehensive genotyping reveals novel CFTR variants in cystic fibrosis patients from the Russian Federation.

Petrova NV et al.

Clinical Genetics, 2019

Side chain and backbone contributions of Phe508 to CFTR folding.

Thibodeau PH et al.

Nature Structural & Molecular Biology, 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."