Varaico: Literature-Extracted Genetic Variants

Gene:TYMP
Variant:p.L461insFs
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TYMP

NM_001953.5:p.L461insFs

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

Cerebral Mitochondrial Microangiopathy Leads to Leukoencephalopathy in Mitochondrial Neurogastrointestinal Encephalopathy.

Gramegna LL et al.

Ajnr. American Journal of Neuroradiology, 2018

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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."