Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.N900T
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CFTR

NM_000492.4:p.N900T

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

Haplotype block structure study of the CFTR gene. Most variants are associated with the M470 allele in several European populations.

Pompei F et al.

European Journal of Human Genetics : Ejhg, 2006

A large-scale study of the random variability of a coding sequence: a study on the CFTR gene.

Modiano G et al.

European Journal of Human Genetics : Ejhg, 2005

Cooperativity and flexibility of cystic fibrosis transmembrane conductance regulator transmembrane segments participate in membrane localization of a charged residue.

Carveth K et al.

The Journal of Biological Chemistry, 2002

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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."