Varaico: Literature-Extracted Genetic Variants

Gene:CTNS
Variant:p.I329insFs
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CTNS

NM_004937.3:p.I329insFs

Associated Papers

Analysis of the CTNS gene in nephropathic cystinosis Mexican patients: report of four novel mutations and identification of a false positive 57-kb deletion genotype with LDM-2/exon 4 multiplex PCR assay.

Alcántara-Ortigoza MA et al.

Genetic Testing, 2008

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."