Varaico: Literature-Extracted Genetic Variants

Gene:CSNK2B
Variant:p.D32N
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CSNK2B

NM_001320.7:p.D32N

Associated Papers

Pathogenic missense variants of CSNK2B associated with Poirier-Bienvenu neurodevelopmental disorder impact differently on CK2 holoenzyme formation.

Kavaliova H et al.

Biological Chemistry, 2025

Genetic analysis and literature review of a Poirier-Bienvenu neurodevelopmental syndrome family line caused by a de novo frameshift variant in CSNK2B.

Li D et al.

Molecular Genetics & Genomic Medicine, 2024

38037515 (PubMed )
Supplement: MGG3-12-e2327-s001.xlsx › Sheet1

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

Haploinsufficiency as a Foreground Pathomechanism of Poirer-Bienvenu Syndrome and Novel Insights Underlying the Phenotypic Continuum of CSNK2B-Associated Disorders.

Di Stazio M et al.

Genes, 2023

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

Chen X et al.

Frontiers in Pediatrics, 2023

De novo variants of CSNK2B cause a new intellectual disability-craniodigital syndrome by disrupting the canonical Wnt signaling pathway.

Asif M et al.

Hgg Advances, 2022

Two different presentations of de novo variants of CSNK2B: two case reports.

Wilke MVMB et al.

Journal of Medical Case Reports, 2022

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

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

Ernst ME et al.

Epilepsia, 2021

De novo mutations in folate-related genes associated with common developmental disorders.

Luo T et al.

Computational and Structural Biotechnology Journal, 2021

33777337 (PubMed )
Supplement: mmc6.xlsx › Sheet1
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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."