Varaico: Literature-Extracted Genetic Variants

Gene:SCN2A
Variant:p.R36*
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SCN2A

NM_001040142.2:p.R36*

Associated Papers

Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes.

Chen S et al.

Medrxiv : the Preprint Server for Health Sciences, 2024

GABRG2 mutations in genetic epilepsy with febrile seizures plus: structure, roles, and molecular genetics.

Li X et al.

Journal of Translational Medicine, 2024

Genetic Neonatal-Onset Epilepsies and Developmental/Epileptic Encephalopathies with Movement Disorders: A Systematic Review.

Spagnoli C et al.

International Journal of Molecular Sciences, 2021

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