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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:UBE3A

Variant:p.P815R

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UBE3A

NM_001354506.2:p.P815R

hg38:chr15:25339252 G>C

Associated Papers

Undiagnosed rare disease clinic identifies a novel UBE3A variant in two sisters with Angelman syndrome: The end of a diagnostic odyssey.

Bruns R et al.

Congenital Anomalies, 2024

38520260 (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."