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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CHD2

Variant:p.L864V

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CHD2

NM_001271.4:p.L864V

hg38:chr15:92978246 C>G

Associated Papers

The phenotype of SCN8A developmental and epileptic encephalopathy.

Gardella E et al.

Neurology, 2018

30171078 (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."