Varaico: Literature-Extracted Genetic Variants

Gene:CSNK2A1
Variant:p.D156E
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CSNK2A1

NM_177559.3:p.D156E

Associated Papers

Expanding the phenotypic spectrum of CSNK2A1-associated Okur-Chung neurodevelopmental syndrome.

Ramadesikan S et al.

Hgg Advances, 2025

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

Bagatelas ED et al.

Frontiers in Human Neuroscience, 2025

40677894 (PubMed )
Supplement: Table_3.xlsx › Table_S3

Autism spectrum disorder and various mechanisms behind it.

Rajabi P et al.

Pharmacology, Biochemistry, and Behavior, 2024

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

Okur-Chung neurodevelopmental syndrome-linked CK2α variants have reduced kinase activity.

Dominguez I et al.

Human Genetics, 2021

Disease-associated mosaic variation in clinical exome sequencing: a two-year pediatric tertiary care experience.

Miller CR et al.

Cold Spring Harbor Molecular Case Studies, 2020

Patient organization perspective: a research roadmap for Okur-Chung Neurodevelopmental Syndrome.

Rushing GV et al.

Therapeutic Advances in Rare Disease, 0

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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."