Varaico: Literature-Extracted Genetic Variants

Gene:SCN1A
Variant:p.R322Splc
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SCN1A

NM_001165963.4:p.R322Splc

Associated Papers

A retrospective study of the yield of next-generation sequencing in the diagnosis of developmental and epileptic encephalopathies and epileptic encephalopathies in 0-12 years aged children at a single tertiary care hospital in South India.

Murthy MC et al.

Epileptic Disorders : International Epilepsy Journal With Videotape, 2024

Deciphering the impact of coding and non-coding SCN1A gene variants on RNA splicing.

Sparber P et al.

Brain : a Journal of Neurology, 2024

De novo and inherited mutations in the X-linked gene CLCN4 are associated with syndromic intellectual disability and behavior and seizure disorders in males and females.

Palmer EE et al.

Molecular Psychiatry, 2018

27550844 (PubMed )
Supplement: mp2016135x1.doc
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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."