Varaico: Literature-Extracted Genetic Variants

Gene:GNAO1
Variant:p.P170R
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GNAO1

NM_020988.3:p.P170R

Associated Papers

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

Katanaev VL et al.

Embo Molecular Medicine, 2025

Mutated G proteins as drug targets.

Noorman van der Dussen K et al.

Trends in Pharmacological Sciences, 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

Zinc for GNAO1 encephalopathy: Preclinical profiling and a clinical case.

Larasati YA et al.

Med (new York, N.y.), 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

GNAO1 Mutations Affecting the N-Terminal α-Helix of Gαo Lead to Parkinsonism.

Solis GP et al.

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

Clinical Cases and the Molecular Profiling of a Novel Childhood Encephalopathy-Causing GNAO1 Mutation P170R.

Larasati YA et al.

Cells, 2023

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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."