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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:GTF2I

Variant:p.D13N

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GTF2I

NM_032999.4:p.D13N

hg38:chr7:74689165 G>A

Associated Papers

The ALOXE3 gene variants from patients with Dravet syndrome decrease gene expression and enzyme activity.

Gao MM et al.

Brain Research Bulletin, 2021

33581311 (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."