Varaico: Literature-Extracted Genetic Variants

Gene:TYMP
Variant:p.G387D
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TYMP

NM_001953.5:p.G387D

Associated Papers

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

Pacitti D et al.

Frontiers in Genetics, 2018

Targeted exome sequencing for mitochondrial disorders reveals high genetic heterogeneity.

DaRe JT et al.

Bmc Medical Genetics, 2013

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

Libernini L et al.

Neuropediatrics, 2012

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

Poulton J et al.

Biochimica Et Biophysica Acta, 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

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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."