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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:EFHC1

Variant:p.V615I

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EFHC1

NM_018100.4:p.V615I

hg38:chr6:52490342 G>A

Associated Papers

Variant Intestinal-Cell Kinase in Juvenile Myoclonic Epilepsy.

Bailey JN et al.

The New England Journal of Medicine, 2018

29539279 (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."