Varaico: Literature-Extracted Genetic Variants

Gene:CTNS
Variant:p.F345_D346insFs
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CTNS

NM_004937.3:p.F345_D346insFs

Associated Papers

Translational readthrough using TRIDs - Achievements and challenges for the treatment of inherited retinal disorders.

Nagel-Wolfrum K et al.

Molecular Aspects of Medicine, 2026

The aminoglycoside geneticin permits translational readthrough of the CTNS W138X nonsense mutation in fibroblasts from patients with nephropathic cystinosis.

Brasell EJ et al.

Pediatric Nephrology (berlin, Germany), 2019

Mutational spectrum of the CTNS gene in Italy.

Mason S et al.

European Journal of Human Genetics : Ejhg, 2003

CTNS mutations in patients with cystinosis.

Anikster Y et al.

Human Mutation, 1999

CTNS mutations in an American-based population of cystinosis patients.

Shotelersuk V et al.

American Journal of Human Genetics, 1998

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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."