Varaico: Literature-Extracted Genetic Variants

Gene:GNAO1
Variant:p.R179G
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GNAO1

NM_020988.3:p.R179G

Associated Papers

Dominant Gα mutations in human disease: unifying mechanisms and treatment strategies.

Katanaev VL et al.

Embo Molecular Medicine, 2025

A GNAI1 Pathogenic Variant in a Case with GNAO1-Isolated Dystonia: A Modifier of Disease Severity?

Monje MHG et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2024

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

Thiel M et al.

Journal of Neurology, Neurosurgery, and Psychiatry, 2023

Highlighting the Dystonic Phenotype Related to GNAO1.

Wirth T et al.

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

Diagnostic Yield of a Targeted Next-Generation Sequencing Gene Panel for Pediatric-Onset Movement Disorders: A 3-Year Cohort Study.

Graziola F et al.

Frontiers in Genetics, 2019

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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."