Varaico: Literature-Extracted Genetic Variants

Gene:SCN2A
Variant:p.A1874T
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SCN2A

NM_001040142.2:p.A1874T

Associated Papers

Clinical whole genome sequencing in pediatric epilepsy: Genetic and phenotypic spectrum of 733 individuals.

Henry OJ et al.

Epilepsia, 2025

40183601 (PubMed )
Supplement: EPI-66-2966-s002.xlsx › supplementary_table10_v3.01

Genetic cause of epilepsy in a Greek cohort of children and young adults with heterogeneous epilepsy syndromes.

Zaganas I et al.

Epilepsy & Behavior Reports, 2021

Simple ClinVar: an interactive web server to explore and retrieve gene and disease variants aggregated in ClinVar database.

Pérez-Palma E et al.

Nucleic Acids Research, 2019

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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."