Varaico: Literature-Extracted Genetic Variants

Gene:TDP2
Variant:p.E53Q
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TDP2

NM_016614.3:p.E53Q

Associated Papers

Biallelic mutations in valyl-tRNA synthetase gene VARS are associated with a progressive neurodevelopmental epileptic encephalopathy.

Friedman J et al.

Nature Communications, 2019

30755602 (PubMed )
Supplement: 41467_2018_7067_MOESM4_ESM.xlsx › Table
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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."