Varaico: Literature-Extracted Genetic Variants

Gene:TPT1
Variant:p.R21W
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TPT1

NM_003295.4:p.R21W

Associated Papers

Cluster of Severe Arginase 1 Deficiency in the Comoros: Clinical, Neuroimaging, and Molecular Features in 17 Patients From Mayotte Compared With 10 From Paris.

De Bruyne A et al.

Journal of Inherited Metabolic Disease, 2026

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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."