Varaico: Literature-Extracted Genetic Variants

Gene:CSNK2B
Variant:p.R47Q
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CSNK2B

NM_001320.7:p.R47Q

Associated Papers

OCNDS core features are conserved across variants, with loop-region mutations driving greater symptom burden.

Bagatelas ED et al.

Frontiers in Human Neuroscience, 2025

Predictive functional, statistical and structural analysis of CSNK2A1 and CSNK2B variants linked to neurodevelopmental diseases.

Unni P et al.

Frontiers in Molecular Biosciences, 2022

Extending the phenotype associated with the CSNK2A1-related Okur-Chung syndrome-A clinical study of 11 individuals.

Owen CI et al.

American Journal of Medical Genetics. Part A, 2018

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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."