Varaico: Literature-Extracted Genetic Variants

Gene:TYMP
Variant:p.A216Splc
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TYMP

NM_001953.5:p.A216Splc

Associated Papers

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

Pacitti D et al.

Frontiers in Genetics, 2018

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

Libernini L et al.

Neuropediatrics, 2012

FGF-21 as a biomarker for muscle-manifesting mitochondrial respiratory chain deficiencies: a diagnostic study.

Suomalainen A et al.

The Lancet. Neurology, 2011

A novel TYMP mutation in a French Canadian patient with mitochondrial neurogastrointestinal encephalomyopathy.

Laforce R et al.

Clinical Neurology and Neurosurgery, 2009

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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."