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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:UBE3A

Variant:p.Y479*

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UBE3A

NM_130838.4:p.Y479*

hg38:chr15:25370677 G>T

Associated Papers

Parental mosaicism in de novo neurodevelopmental diseases.

Shu L et al.

American Journal of Medical Genetics. Part A, 2021

33851778 (PubMed )

Angelman syndrome in Hong Kong Chinese: A 20 years' experience.

Luk HM et al.

European Journal of Medical Genetics, 2016

27174604 (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."