Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.Q685_K688del0
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CFTR

NM_000492.4:p.Q685_K688del0

Associated Papers

Variability in disease severity among cystic fibrosis patients carrying residual-function variants: data from the European Cystic Fibrosis Society Patient Registry.

Mei-Zahav M et al.

Erj Open Research, 2025

39811546 (PubMed )
Supplement: 00587-2024.SUPPLEMENT.pdf

Molecular screening of the CFTR gene in Mexican patients with congenital absence of the vas deferens.

Saldaña-Alvarez Y et al.

Genetic Testing and Molecular Biomarkers, 2012

CFTR gene analysis in Latin American CF patients: heterogeneous origin and distribution of mutations across the continent.

Pérez MM et al.

Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society, 2007

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

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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."