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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:HELZ2

Variant:p.V1049L

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HELZ2

NM_001037335.2:p.V1049L

hg38:chr20:63565677 C>G

Associated Papers

An Analysis of the Pathogenic Genes and Mutation Sites of Macrodactyly.

Li JF et al.

Pharmacogenomics and Personalized Medicine, 2022

35125881 (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."