Varaico: Literature-Extracted Genetic Variants

Gene:SCN2A
Variant:p.L1660V
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SCN2A

NM_001040142.2:p.L1660V

Associated Papers

Clinical application of prospective whole-exome sequencing in the diagnosis of genetic disease: Experience of a regional disease center in South Korea.

Lee JY et al.

Annals of Human Genetics, 2024

3Cnet: pathogenicity prediction of human variants using multitask learning with evolutionary constraints.

Won DG et al.

Bioinformatics (oxford, England), 2021

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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."