Varaico: Literature-Extracted Genetic Variants

Gene:TYMP
Variant:p.Q481Q
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TYMP

NM_001953.5:p.Q481Q

Associated Papers

Phenotype and genotype in hereditary chronic intestinal pseudo-obstruction with small intestine involvement.

Chen Y et al.

Frontiers in Medicine, 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

Mitochondrial neurogastrointestinal encephalomyopathy: evidence of mitochondrial DNA depletion in the small intestine.

Giordano C et al.

Gastroenterology, 2006

Late-onset MNGIE due to partial loss of thymidine phosphorylase activity.

Martí R et al.

Annals of Neurology, 2005

Ocular findings in mitochondrial neurogastrointestinal encephalomyopathy: a case report.

Barboni P et al.

Graefe's Archive for Clinical and Experimental Ophthalmology = Albrecht Von Graefes Archiv Fur Klinische Und Experimentelle Ophthalmologie, 2004

Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): a disease of two genomes.

Hirano M et al.

The Neurologist, 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."