Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.I1234M
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CFTR

NM_000492.4:p.I1234M

Associated Papers

Comparative ex vivo, in vitro and in silico analyses of a CFTR splicing mutation: Importance of functional studies to establish disease liability of mutations.

Ramalho AS et al.

Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society, 2016

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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."