Varaico: Literature-Extracted Genetic Variants

Gene:SCN1A
Variant:p.K88_T89Splc
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SCN1A

NM_001165963.4:p.K88_T89Splc

Associated Papers

The SCN1A gene variants and epileptic encephalopathies.

Parihar R et al.

Journal of Human Genetics, 2013

SCN1A testing for epilepsy: application in clinical practice.

Hirose S et al.

Epilepsia, 2013

De novo SCN1A mutations in Dravet syndrome and related epileptic encephalopathies are largely of paternal origin.

Heron SE et al.

Journal of Medical Genetics, 2010

The SCN1A variant database: a novel research and diagnostic tool.

Claes LR et al.

Human Mutation, 2009

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