Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.A309A
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CFTR

NM_000492.4:p.A309A

Associated Papers

Diversity of CFTR variants across ancestries characterized using 454,727 UK biobank whole exome sequences.

Ideozu JE et al.

Genome Medicine, 2024

38515211 (PubMed )
Supplement: 13073_2024_1316_MOESM1_ESM.xlsx › Table_S1A

Functional analysis of synonymous substitutions predicted to affect splicing of the CFTR gene.

Scott A et al.

Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society, 2012

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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."