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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:UBE3B

Variant:p.R1029H

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UBE3B

NM_130466.4:p.R1029H

hg38:chr12:109534661 G>A

Associated Papers

Case Report: A Novel PAX3 Mutation Associated With Waardenburg Syndrome Type 1.

Hu Q et al.

Frontiers in Genetics, 2021

33747040 (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."