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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:EDNRB

Variant:p.A233G

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EDNRB

NM_001122659.3:p.A233G

hg38:chr13:77903259 G>C

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."