Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.Y1092S
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CFTR

NM_000492.4:p.Y1092S

Associated Papers

Extended stop codon context predicts nonsense codon readthrough efficiency in human cells.

Mangkalaphiban K et al.

Nature Communications, 2024

38509072 (PubMed )
Supplement: 41467_2024_46703_MOESM5_ESM.xls › Sheet1

CFTR mutations in patients from Colombia: implications for local and regional molecular diagnosis programs.

Keyeux G et al.

Human Mutation, 2003

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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."