Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.Q1268*
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CFTR

NM_000492.4:p.Q1268*

Associated Papers

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

Factors influencing readthrough therapy for frequent cystic fibrosis premature termination codons.

Pranke I et al.

Erj Open Research, 2018

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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."