Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.I1132insFs
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CFTR

NM_000492.4:p.I1132insFs

Associated Papers

CFTR-France, a national relational patient database for sharing genetic and phenotypic data associated with rare CFTR variants.

Claustres M et al.

Human Mutation, 2017

High heterogeneity of CFTR mutations and unexpected low incidence of cystic fibrosis in the Mediterranean France.

des Georges M et al.

Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society, 2004

Are p.I148T, p.R74W and p.D1270N cystic fibrosis causing mutations?

Claustres M et al.

Bmc Medical Genetics, 2004

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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."