Varaico: Literature-Extracted Genetic Variants

Gene:UBE2A
Variant:p.A126T
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UBE2A

NM_003336.4:p.A126T

Associated Papers

Diagnostic utility of DNA methylation analysis in genetically unsolved pediatric epilepsies and CHD2 episignature refinement.

LaFlamme CW et al.

Nature Communications, 2024

Diagnostic Utility of Genome-wide DNA Methylation Analysis in Genetically Unsolved Developmental and Epileptic Encephalopathies and Refinement of a CHD2 Episignature.

LaFlamme CW et al.

Medrxiv : the Preprint Server for Health Sciences, 2023

Characterization of novel rad6/ubc2 ubiquitin-conjugating enzyme mutants in yeast.

Freiberg G et al.

Current Genetics, 2000

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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."