Varaico: Literature-Extracted Genetic Variants

Gene:CSNK2B
Variant:p.S125*
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CSNK2B

NM_001320.7:p.S125*

Associated Papers

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

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

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
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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."