Varaico: Literature-Extracted Genetic Variants

Gene:CSNK1E
Variant:p.F295_G296Splc
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CSNK1E

NM_152221.3:p.F295_G296Splc

Associated Papers

Diagnostic utility of DNA methylation analysis in genetically unsolved pediatric epilepsies and CHD2 episignature refinement.

LaFlamme CW et al.

Nature Communications, 2024

Diagnostic Utility of Genome-wide DNA Methylation Analysis in Genetically Unsolved Developmental and Epileptic Encephalopathies and Refinement of a CHD2 Episignature.

LaFlamme CW et al.

Medrxiv : the Preprint Server for Health Sciences, 2023

A de novo pathogenic CSNK1E mutation identified by exome sequencing in family trios with epileptic encephalopathy.

Chen X et al.

Human Mutation, 2019

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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."