Varaico: Literature-Extracted Genetic Variants

Gene:TYMP
Variant:p.A411_L415delFs
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TYMP

NM_001953.5:p.A411_L415delFs

Associated Papers

Brain magnetic resonance imaging findings in Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE): A case-based review.

Christodoulou MV et al.

Radiology Case Reports, 2025

39758336 (PubMed )
Supplement: mmc1.pdf

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

Liver transplantation in mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): clinical long-term follow-up and pathogenic implications.

D'Angelo R et al.

Journal of Neurology, 2020

Macular impairment in mitochondrial diseases: a potential biomarker of disease severity.

Primiano G et al.

Scientific Reports, 2020

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

The role of brain MRI in mitochondrial neurogastrointestinal encephalomyopathy.

Scarpelli M et al.

The Neuroradiology Journal, 2013

Pitfalls in diagnosing mitochondrial neurogastrointestinal encephalomyopathy.

Filosto M et al.

Journal of Inherited Metabolic Disease, 2011

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