Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.L702_N706delins
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CFTR

NM_000492.4:p.L702_N706delins

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

Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practice.

Castellani C et al.

Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society, 2008

Diagnostic testing by CFTR gene mutation analysis in a large group of Hispanics: novel mutations and assessment of a population-specific mutation spectrum.

Schrijver I et al.

The Journal of Molecular Diagnostics : Jmd, 2005

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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."