Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.K464_T465Splc
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CFTR

NM_000492.4:p.K464_T465Splc

Associated Papers

Gross genomic rearrangements involving deletions in the CFTR gene: characterization of six new events from a large cohort of hitherto unidentified cystic fibrosis chromosomes and meta-analysis of the underlying mechanisms.

Férec C et al.

European Journal of Human Genetics : Ejhg, 2006

Genomic rearrangements in the CFTR gene: extensive allelic heterogeneity and diverse mutational mechanisms.

Audrézet MP et al.

Human Mutation, 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."