Varaico: Literature-Extracted Genetic Variants

Gene:TYRP1
Variant:p.C122S
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TYRP1

NM_000550.3:p.C122S

Associated Papers

Analysis of clinical features and genetic variants in Chinese children with pyridoxine-dependent epilepsy: a case series study.

Yu X et al.

Frontiers in Neurology, 2025

Overexpression of Upf1p compensates for mitochondrial splicing deficiency independently of its role in mRNA surveillance.

de Pinto B et al.

Molecular Microbiology, 2004

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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."