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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CFTR

Variant:p.L387_T388insFs

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CFTR

NM_000492.4:p.L387_T388insFs

hg38:chr7:117542060 A>AG

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

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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."