Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.W1282L
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CFTR

NM_000492.4:p.W1282L

Associated Papers

ACE-tRNAs are a platform technology for suppressing nonsense mutations that cause cystic fibrosis.

Ko W et al.

Nucleic Acids Research, 2025

Optimization of ACE-tRNAs function in translation for suppression of nonsense mutations.

Porter JJ et al.

Nucleic Acids Research, 2024

Efficient suppression of endogenous CFTR nonsense mutations using anticodon-engineered transfer RNAs.

Ko W et al.

Molecular Therapy. Nucleic Acids, 2022

Nanomolar-potency 'co-potentiator' therapy for cystic fibrosis caused by a defined subset of minimal function CFTR mutants.

Phuan PW et al.

Scientific Reports, 2019

Identification of the amino acids inserted during suppression of CFTR nonsense mutations and determination of their functional consequences.

Xue X et al.

Human Molecular Genetics, 2017

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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."