Varaico: Literature-Extracted Genetic Variants

Gene:CTNS
Variant:p.S139Y
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CTNS

NM_004937.3:p.S139Y

Associated Papers

Molecular characterization of cystinosis patients: predominance of the CTNS c.829dup mutation in Center of Tunisia.

Sahli C et al.

Bmc Genomic Data, 2026

Molecular characterization of CTNS mutations in Tunisian patients with ocular cystinosis.

Chkioua L et al.

Diagnostic Pathology, 2022

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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."