Varaico: Literature-Extracted Genetic Variants

Gene:TYMP
Variant:p.V477_L478insFs
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TYMP

NM_001953.5:p.V477_L478insFs

Associated Papers

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

Safety and Efficacy of Erythrocyte Encapsulated Thymidine Phosphorylase in Mitochondrial Neurogastrointestinal Encephalomyopathy.

Levene M et al.

Journal of Clinical Medicine, 2019

Mitochondrial Neurogastrointestinal Encephalomyopathy: Into the Fourth Decade, What We Have Learned So Far.

Pacitti D et al.

Frontiers in Genetics, 2018

Unexplained gastrointestinal symptoms: think mitochondrial disease.

Chapman TP et al.

Digestive and Liver Disease : Official Journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver, 2014

Collated mutations in mitochondrial DNA (mtDNA) depletion syndrome (excluding the mitochondrial gamma polymerase, POLG1).

Poulton J et al.

Biochimica Et Biophysica Acta, 2009

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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."