Varaico: Literature-Extracted Genetic Variants

Gene:TYMP
Variant:p.E38*
Back to variants list

TYMP

NM_001953.5:p.E38*

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

Hemodialysis in MNGIE transiently reduces serum and urine levels of thymidine and deoxyuridine, but not CSF levels and neurological function.

Röeben B et al.

Orphanet Journal of Rare Diseases, 2017

Mitochondrial neurogastrointestinal encephalomyopathy: novel pathogenic mutations in thymidine phosphorylase gene in two Italian brothers.

Libernini L et al.

Neuropediatrics, 2012

Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): case report with a new mutation.

Bariş Z et al.

European Journal of Pediatrics, 2010

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."