Varaico: Literature-Extracted Genetic Variants

Gene:GNAO1
Variant:p.N242T
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GNAO1

NM_020988.3:p.N242T

Associated Papers

GoLoco/GPR motif-dependent regulation of Rap1GAP1 by Gαo is disrupted by Gαo encephalopathy variants.

Momplaisir NL et al.

The Journal of Biological Chemistry, 2025

Molecular annotation of G protein variants in a neurological disorder.

Knight KM et al.

Cell Reports, 2023

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

Thiel M et al.

Journal of Neurology, Neurosurgery, and Psychiatry, 2023

GNAO1-related movement disorder: An update on phenomenology, clinical course, and response to treatments.

Novelli M et al.

Parkinsonism & Related Disorders, 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."