Varaico: Literature-Extracted Genetic Variants

Gene:GNAO1
Variant:p.T241_N242Splc
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GNAO1

NM_020988.3:p.T241_N242Splc

Associated Papers

Loss of the conserved switch III region in a G protein leads to severe pediatric encephalopathy.

Savitsky M et al.

Science Signaling, 2025

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

Katanaev VL et al.

Embo Molecular Medicine, 2025

Clinical and Molecular Profiling in GNAO1 Permits Phenotype-Genotype Correlation.

Lasa-Aranzasti A et al.

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

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

Sáez González M et al.

Human Mutation, 2023

Caenorhabditis elegans provides an efficient drug screening platform for GNAO1-related disorders and highlights the potential role of caffeine in controlling dyskinesia.

Di Rocco M et al.

Human Molecular Genetics, 2022

34622282 (PubMed )
Supplement: supplementary_material_ddab296.docx
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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."