Varaico: Literature-Extracted Genetic Variants

Gene:GNAO1
Variant:p.C225Y
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GNAO1

NM_020988.3:p.C225Y

Associated Papers

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

Katanaev VL et al.

Embo Molecular Medicine, 2025

Novel Mutation at Cys225 in GNAO1-Associated Developmental and Epileptic Encephalopathies: Clinical, Molecular, and Pharmacological Profiling of Case Studies.

Larasati YA et al.

Medcomm, 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

Diagnostic Yield and Cost-Effectiveness of "Dynamic" Exome Analysis in Epilepsy with Neurodevelopmental Disorders: A Tertiary-Center Experience in Northern Italy.

Varesio C et al.

Diagnostics (basel, Switzerland), 2021

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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."