Varaico: Literature-Extracted Genetic Variants

Gene:GNAO1
Variant:p.R206Q
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GNAO1

NM_020988.3:p.R206Q

Associated Papers

Episodic Choreo-Dystonic Storm in an Infantile-Onset Movement Disorder: Think of G Protein Subunit Alpha O1 Gene Defect!

Saxena M et al.

Annals of Indian Academy of Neurology, 2025

Rare GNAO1 Variant Presenting with Deep Brain Stimulation-Responsive Jaw-Opening Dystonia.

Maass F et al.

Movement Disorders Clinical Practice, 2025

The Spectrum of GNAO1 Mutation Can Include Childhood-Onset Isolated Generalized Dystonia.

Chowdhury S et al.

Movement Disorders Clinical Practice, 2025

Genotype-phenotype correlation and treatment effects in young patients with GNAO1-associated disorders.

Thiel M et al.

Journal of Neurology, Neurosurgery, and Psychiatry, 2023

Phenotypic Diversity in GNAO1 Patients: A Comprehensive Overview of Variants and Phenotypes.

Sáez González M et al.

Human Mutation, 2023

Highlighting the Dystonic Phenotype Related to GNAO1.

Wirth T et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2022

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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."