Varaico: Literature-Extracted Genetic Variants

Gene:CSNK2B
Variant:p.D32H
Back to variants list

CSNK2B

NM_001320.7:p.D32H

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

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

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

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

35774559 (PubMed )
Supplement: Table_1.xlsx › sheet1
Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."