Varaico: Literature-Extracted Genetic Variants

Gene:SIK1
Variant:p.E347*
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SIK1

NM_173354.5:p.E347*

Associated Papers

Epilepsy-causing sequence variations in SIK1 disrupt synaptic activity response gene expression and affect neuronal morphology.

Pröschel C et al.

European Journal of Human Genetics : Ejhg, 2017

In silico prioritization based on coexpression can aid epileptic encephalopathy gene discovery.

Oliver KL et al.

Neurology. Genetics, 2016

27066588 (PubMed )
Supplement: supp_2.1.e51_table_e-2.xlsx › table_e-2

De novo mutations in SIK1 cause a spectrum of developmental epilepsies.

Hansen J et al.

American Journal of Human Genetics, 2015

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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."