Varaico: Literature-Extracted Genetic Variants

Gene:CSNK2B
Variant:p.D59Splc
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CSNK2B

NM_001320.7:p.D59Splc

Associated Papers

Case report: Novel deletions in the 6p21.33 involving the CSNK2B gene in patients with Poirier-Bienvenu neurodevelopmental syndrome and literature review.

Zhang X et al.

Frontiers in Medicine, 2024

Case report: Two cases of Poirier-Bienvenu neurodevelopmental syndrome and review of literature.

Chen X et al.

Frontiers in Pediatrics, 2023

De Novo CSNK2B Mutations in Five Cases of Poirier-Bienvenu Neurodevelopmental Syndrome.

Yang Q et al.

Frontiers in Neurology, 2022

Splicing Interruption by Intron Variants in CSNK2B Causes Poirier-Bienvenu Neurodevelopmental Syndrome: A Focus on Genotype-Phenotype Correlations.

Zhang W et al.

Frontiers in Neuroscience, 2022

Predictive functional, statistical and structural analysis of CSNK2A1 and CSNK2B variants linked to neurodevelopmental diseases.

Unni P et al.

Frontiers in Molecular Biosciences, 2022

Clinical and genetic analysis of six Chinese children with Poirier-Bienvenu neurodevelopmental syndrome caused by CSNK2B mutation.

Yang S et al.

Neurogenetics, 2021

CSNK2B: A broad spectrum of neurodevelopmental disability and epilepsy severity.

Ernst ME et al.

Epilepsia, 2021

Identification of de novo CSNK2A1 and CSNK2B variants in cases of global developmental delay with seizures.

Nakashima M et al.

Journal of Human Genetics, 2019

CSNK2B splice site mutations in patients cause intellectual disability with or without myoclonic epilepsy.

Poirier K et al.

Human Mutation, 2017

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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."