Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.E1417fs
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CFTR

NM_000492.4:p.E1417fs

Associated Papers

Validation of a semiconductor next-generation sequencing assay for the clinical genetic screening of CFTR.

Trujillano D et al.

Molecular Genetics & Genomic Medicine, 2015

Next generation sequencing to determine the cystic fibrosis mutation spectrum in Palestinian population.

Essawi O et al.

Disease Markers, 2015

Identification of novel and rare mutations in California Hispanic and African American cystic fibrosis patients.

Alper OM 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."