Varaico: Literature-Extracted Genetic Variants

Gene:TYMP
Variant:p.E286K
Back to variants list

TYMP

NM_001953.5:p.E286K

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

[Fatal cachexia caused by mitochondrial neuro-gastro-intestinal encephalomyopathy].

Hoei-Hansen CE et al.

Ugeskrift for Laeger, 2019

Utility and limitations of exome sequencing as a genetic diagnostic tool for children with hearing loss.

Sheppard S et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018

29907799 (PubMed )
Supplement: 41436_2018_4_MOESM3_ESM.xlsx › variant-_capture___coverage

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

Pacitti D et al.

Frontiers in Genetics, 2018

Collated mutations in mitochondrial DNA (mtDNA) depletion syndrome (excluding the mitochondrial gamma polymerase, POLG1).

Poulton J et al.

Biochimica Et Biophysica Acta, 2009

Frequency of mitochondrial defects in patients with chronic intestinal pseudo-obstruction.

Amiot A et al.

Gastroenterology, 2009

Clinicopathological aspects of the neuropathy of neurogastrointestinal encephalomyopathy (MNGIE) in four patients including two with a Charcot-Marie-Tooth presentation.

Said G et al.

Journal of Neurology, 2005

Thymidine phosphorylase gene mutations in patients with mitochondrial neurogastrointestinal encephalomyopathy syndrome.

Slama A et al.

Molecular Genetics and Metabolism, 2005

Digestive smooth muscle mitochondrial myopathy in patients with mitochondrial-neuro-gastro-intestinal encephalomyopathy (MNGIE).

Blondon H et al.

Gastroenterologie Clinique Et Biologique, 0

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."