Varaico: Literature-Extracted Genetic Variants

Gene:UBE3A
Variant:p.A77V
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UBE3A

NM_130839.5:p.A77V

Associated Papers

A luminescence-based biosensor to measure endogenous UBE3A activity.

Xing L et al.

Iscience, 2025

Genetic investigation of the ubiquitin-protein ligase E3A gene as putative target in Angelman syndrome.

Manoubi W et al.

World Journal of Clinical Cases, 2024

The functional landscape of the human phosphoproteome.

Ochoa D et al.

Nature Biotechnology, 2020

31819260 (PubMed )
Supplement: EMS84831-supplement-Table_S5.xlsx › clinvar_data
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