Varaico: Literature-Extracted Genetic Variants

Gene:CSNK2B
Variant:p.M132fs
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CSNK2B

NM_001320.7:p.M132fs

Associated Papers

Refining of the electroclinical phenotype in familial and sporadic cases of CSNK2B-related Neurodevelopmental Syndrome.

Trivisano M et al.

Epilepsy & Behavior : E&b, 2023

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 CSNK2B Mutations in Five Cases of Poirier-Bienvenu Neurodevelopmental Syndrome.

Yang Q et al.

Frontiers in Neurology, 2022

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

Ernst ME et al.

Epilepsia, 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."