Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.L184_S185insFs
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CFTR

NM_000492.4:p.L184_S185insFs

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

Cystic fibrosis: a worldwide analysis of CFTR mutations--correlation with incidence data and application to screening.

Bobadilla JL et al.

Human Mutation, 2002

Geographic distribution and regional origin of 272 cystic fibrosis mutations in European populations. The Biomed CF Mutation Analysis Consortium.

Estivill X et al.

Human Mutation, 1997

Novel frameshift mutation in exon 4 of CFTR gene.

Ivaschenko T et al.

Human Mutation, 1995

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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."