Varaico: Literature-Extracted Genetic Variants

Gene:TYMP
Variant:p.K34insFs
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TYMP

NM_001953.5:p.K34insFs

Associated Papers

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

Poulton J et al.

Biochimica Et Biophysica Acta, 2009

A novel ECGF1 mutation in a Thai patient with mitochondrial neurogastrointestinal encephalomyopathy (MNGIE).

Kintarak J et al.

Clinical Neurology and Neurosurgery, 2007

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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."