Varaico: Literature-Extracted Genetic Variants

Gene:CSNK2B
Variant:p.F106V
Back to variants list

CSNK2B

NM_001320.7:p.F106V

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

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

35774559 (PubMed )
Supplement: Table_1.xlsx › sheet1

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

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."