Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.H856insFs
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CFTR

NM_000492.4:p.H856insFs

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

Identification and frequencies of cystic fibrosis mutations in central Argentina.

Pepermans X et al.

Clinical Biochemistry, 2016

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

Complete screening of the CFTR gene in Argentine cystic fibrosis patients.

Visich A et al.

Clinical Genetics, 2002

[Characterization of 3 microsatellites of the cystic fibrosis gene in Argentine families].

Visich AA et al.

Medicina, 2001

Spectrum of CFTR mutations in Argentine cystic fibrosis patients.

Chertkoff L et al.

Clinical Genetics, 1997

Identification of three novel mutations in the cystic fibrosis transmembrane conductance regulator gene in Argentinian CF patients.

Bienvenu T et al.

Human Mutation, 1996

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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."