Varaico: Literature-Extracted Genetic Variants

Gene:CTNS
Variant:p.T216M
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CTNS

NM_004937.3:p.T216M

Associated Papers

A novel de novo nonsense mutation in SALL4 causing duane radial ray syndrome: a case report and expanding the phenotypic spectrum.

Ajam-Hosseini M et al.

Bmc Medical Genomics, 2023

36829172 (PubMed )
Supplement: 12920_2023_1467_MOESM1_ESM.xls › BY1261.txt.nznd

[Cystinuria update: clinical, biochemical and genetic aspects].

Orts Costa JA et al.

Anales De Medicina Interna (madrid, Spain : 1984), 2003

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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."