Varaico: Literature-Extracted Genetic Variants

Gene:TYMP
Variant:p.A268A
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TYMP

NM_001953.5:p.A268A

Associated Papers

Next generation sequencing in family with MNGIE syndrome associated to optic atrophy: Novel homozygous POLG mutation in the C-terminal sub-domain leading to mtDNA depletion.

Felhi R et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2019

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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."