Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.E1417*
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CFTR

NM_000492.4:p.E1417*

Associated Papers

Genetically engineered approaches to the treatment of cystic fibrosis.

Safrygina AA et al.

Biophysical Reviews, 2025

TLN468 changes the pattern of tRNA used to read through premature termination codons in CFTR.

Karri S et al.

Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society, 2024

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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."