Varaico: Literature-Extracted Genetic Variants

Gene:TYMP
Variant:p.Q67*
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TYMP

NM_001953.5:p.Q67*

Associated Papers

The Landscape of Genetic Variation and Disease Risk in Romania: A Single-Center Study of Autosomal Recessive Carrier Frequencies and Molecular Variants.

Gug M et al.

International Journal of Molecular Sciences, 2025

41303398 (PubMed )
Supplement: ijms-26-10912-s001.zip › Table_S1.pdf

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

Poor Outcome in a Mitochondrial Neurogastrointestinal Encephalomyopathy Patient with a Novel TYMP Mutation: The Need for Early Diagnosis.

Scarpelli M et al.

Case Reports in Neurology, 2012

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