Varaico: Literature-Extracted Genetic Variants

Gene:GNAO1
Variant:p.D273V
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GNAO1

NM_020988.3:p.D273V

Associated Papers

Deciphering a mechanistic basis for the pathological effect of the GNAO1 E246K variant in neurodevelopmental disorder.

Sadiya I et al.

Bba Advances, 2026

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

Katanaev VL et al.

Embo Molecular Medicine, 2025

Decoding GNAO1 mutations using Caenorhabditis elegans model system: past approaches and future prospectives.

Yadav S et al.

Frontiers in Cellular Neuroscience, 2025

Molecular annotation of G protein variants in a neurological disorder.

Knight KM et al.

Cell Reports, 2023

37980565 (PubMed )
Supplement: NIHMS1950750-supplement-Suppl__material.zip › 1-s2.0-S2211124723014742-mmc6.pdf

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 neurodevelopmental disorder: Literature review and caregiver survey.

JoJo Yang QZ et al.

Epilepsy & Behavior Reports, 2023

36654732 (PubMed )
Supplement: mmc1.xlsx › Draft

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

Sáez González M et al.

Human Mutation, 2023

Genetic Neonatal-Onset Epilepsies and Developmental/Epileptic Encephalopathies with Movement Disorders: A Systematic Review.

Spagnoli C et al.

International Journal of Molecular Sciences, 2021

33919646 (PubMed )
Supplement: ijms-22-04202-s001.zip › Table_S1.pdf

Phenomenology and clinical course of movement disorder in GNAO1 variants: Results from an analytical review.

Schirinzi T et al.

Parkinsonism & Related Disorders, 2019

Spectrum of neurodevelopmental disease associated with the GNAO1 guanosine triphosphate-binding region.

Kelly M et al.

Epilepsia, 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."