Varaico: Literature-Extracted Genetic Variants

Gene:CSNK2A1
Variant:p.R47*
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CSNK2A1

NM_177559.3:p.R47*

Associated Papers

Case report: Two cases of Poirier-Bienvenu neurodevelopmental syndrome and review of literature.

Chen X et al.

Frontiers in Pediatrics, 2023

Comparing Two Neurodevelopmental Disorders Linked to CK2: Okur-Chung Neurodevelopmental Syndrome and Poirier-Bienvenu Neurodevelopmental Syndrome-Two Sides of the Same Coin?

Ballardin D et al.

Frontiers in Molecular Biosciences, 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

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

Ernst ME et al.

Epilepsia, 2021

The genomic landscape of diffuse intrinsic pontine glioma and pediatric non-brainstem high-grade glioma.

Wu G et al.

Nature Genetics, 2014

24705251 (PubMed )
Supplement: NIHMS573627-supplement-2.xlsx › ST11
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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."