Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.K464_T465Splc
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CFTR

NM_000492.4:p.K464_T465Splc

Associated Papers

The c.1364C>A (p.A455E) Mutation in the CFTR Pseudogene Results in an Incorrectly Assigned Carrier Status by a Commonly Used Screening Platform.

Deeb KK et al.

The Journal of Molecular Diagnostics : Jmd, 2015

Consequences of partial duplications of the human CFTR gene on cf diagnosis: mutations or ectopic variations.

El-Seedy A et al.

Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society, 2013

Influence of the duplication of CFTR exon 9 and its flanking sequences on diagnosis of cystic fibrosis mutations.

El-Seedy A et al.

The Journal of Molecular Diagnostics : Jmd, 2009

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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."