Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.S557_L558insFs
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CFTR

NM_000492.4:p.S557_L558insFs

Associated Papers

Ivacaftor potentiation of multiple CFTR channels with gating mutations.

Yu H et al.

Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society, 2012

High incidence of the CFTR mutations 3272-26A-->G and L927P in Belgian cystic fibrosis patients, and identification of three new CFTR mutations (186-2A-->G, E588V, and 1671insTATCA).

Storm K et al.

Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society, 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."