Varaico: Literature-Extracted Genetic Variants

Gene:TYMP
Variant:p.K139_V140Splc
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TYMP

NM_001953.5:p.K139_V140Splc

Associated Papers

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

Xu X et al.

Orphanet Journal of Rare Diseases, 2025

Meningoencephalitis in a novel mutation in MNGIE (mitochondrial neurogastrointestinal encephalomyopathy) ending a familial diagnostic odyssey: A case series report.

Redha N et al.

Journal of Central Nervous System Disease, 2024

38550250 (PubMed )
Supplement: sj-pdf-1-cns-10.1177_11795735241241423.pdf

Intensive nutrition support may benefit patients with a rare mitochondrial disorder.

Kasti A et al.

Nutrition in Clinical Practice : Official Publication of the American Society for Parenteral and Enteral Nutrition, 2022

Mitochondrial neurogastrointestinal encephalomyopathy: Clinical and biochemical impact of allogeneic stem cell transplantation in a Greek patient with one novel TYMP mutation.

Paisiou A et al.

Molecular Genetics and Metabolism Reports, 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."