Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.A1285delFs
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CFTR

NM_000492.4:p.A1285delFs

Associated Papers

Correctors and Potentiators Rescue Function of the Truncated W1282X-Cystic Fibrosis Transmembrane Regulator (CFTR) Translation Product.

Haggie PM et al.

The Journal of Biological Chemistry, 2017

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

Singh M et al.

Respirology (carlton, Vic.), 2015

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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."