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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:UBE3A

Variant:p.E567K

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UBE3A

NM_000462.5:p.E567K

hg38:chr15:25360446 C>T

Associated Papers

Diagnostic yield of targeted massively parallel sequencing in children with epileptic encephalopathy.

Kothur K et al.

Seizure, 2018

29852413 (PubMed )

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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."