Varaico: Literature-Extracted Genetic Variants

Gene:TYMP
Variant:p.A134E
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TYMP

NM_001953.5:p.A134E

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

Insights from the SNP analysis of TYMP gene linking MNGIE.

Sifeddine N et al.

Bioinformation, 2024

Mitochondrial neurogastrointestinal encephalopathy: a clinicopathological mimic of Crohn's disease.

Patel R et al.

Bmc Gastroenterology, 2019

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

Pacitti D et al.

Frontiers in Genetics, 2018

Clinicopathology and Diagnosis Delay in a 40-Year-Old with Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE).

Tawk A et al.

Case Reports in Gastroenterology, 0

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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."