Varaico: Literature-Extracted Genetic Variants

Gene:SCN2A
Variant:p.R102P
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SCN2A

NM_001040142.2:p.R102P

Associated Papers

Characterization of 13 Novel Genetic Variants in Genes Associated with Epilepsy: Implications for Targeted Therapeutic Strategies.

Andjelkovic M et al.

Molecular Diagnosis & Therapy, 2024

Integrated multi-omics for rapid rare disease diagnosis on a national scale.

Lunke S et al.

Nature Medicine, 2023

37291213 (PubMed )
Supplement: 41591_2023_2401_MOESM1_ESM.pdf
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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."