Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.F508Y
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CFTR

NM_000492.4:p.F508Y

Associated Papers

Side chain and backbone contributions of Phe508 to CFTR folding.

Thibodeau PH et al.

Nature Structural & Molecular Biology, 2005

Segregation of delta F508 and normal CFTR alleles in human sperm.

Williams C et al.

Human Molecular Genetics, 1993

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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."