Varaico: Literature-Extracted Genetic Variants

Gene:UBE3A
Variant:p.R503delFs
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UBE3A

NM_130839.5:p.R503delFs

Associated Papers

An Analysis of Phenotype and Genotype in a Large Cohort of Chinese Children with Angelman Syndrome.

Du X et al.

Genes, 2022

36011358 (PubMed )
Supplement: genes-13-01447-s001.zip › genes-1850375-supplementary_Table_S1.xlsx › Sheet1
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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."