Varaico: Literature-Extracted Genetic Variants

Gene:TYMP
Variant:p.A469insFs
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TYMP

NM_001953.5:p.A469insFs

Associated Papers

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

Gastrointestinal dysmotility in mitochondrial neurogastrointestinal encephalomyopathy is caused by mitochondrial DNA depletion.

Giordano C et al.

The American Journal of Pathology, 2008

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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."