Varaico: Literature-Extracted Genetic Variants

Gene:TYMP
Variant:p.D443fs
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TYMP

NM_001953.5:p.D443fs

Associated Papers

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

Libernini L et al.

Neuropediatrics, 2012

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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."