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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CFTR

Variant:p.S1347fs

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CFTR

NM_000492.4:p.S1347fs

hg38:chr7:117664763 AGC>N

Associated Papers

Mutation characterisation of the cystic fibrosis transmembrane conductance regulator (CFTR) gene in people with cystic fibrosis in Northern Ireland.

Blevings PJ et al.

The Ulster Medical Journal, 2025

41019016 (PubMed )

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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."