Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.L719fs
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CFTR

NM_000492.4:p.L719fs

Associated Papers

Comprehensive genetic analysis of the cystic fibrosis transmembrane conductance regulator from dried blood specimens--implications for newborn screening.

Kammesheidt A et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2006

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."