Varaico: Literature-Extracted Genetic Variants

Gene:CSNK2B
Variant:p.R186Splc
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CSNK2B

NM_001320.7:p.R186Splc

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

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

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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."