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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SCN2A

Variant:p.L274_K277del4

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SCN2A

NM_001040142.2:p.L274_K277del4

hg38:chr2:165310444 CCTACGAAATAAA>C

Associated Papers

Novel and de novo mutations in pediatric refractory epilepsy.

Liu J et al.

Molecular Brain, 2018

30185235 (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."