Varaico: Literature-Extracted Genetic Variants

Gene:TYMP
Variant:p.R393_L401ins3
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TYMP

NM_001953.5:p.R393_L401ins3

Associated Papers

Expansion of the Phenotypic Spectrum of MNGIE: Lipodystrophy and Metabolic Alterations Associated with a p.Arg393_Val400dup TYMP Variant.

Gilio D et al.

International Journal of Molecular Sciences, 2025

Mitochondrial neurogastrointestinal encephalomyopathy in china: a novel TYMP variant and comprehensive clinical-genetic insights.

Xu X et al.

Orphanet Journal of Rare Diseases, 2025

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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."