Varaico: Literature-Extracted Genetic Variants

Gene:GNAO1
Variant:p.R209G
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GNAO1

NM_020988.3:p.R209G

Associated Papers

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

GNAO1-related neurodevelopmental disorder: Literature review and caregiver survey.

JoJo Yang QZ et al.

Epilepsy & Behavior Reports, 2023

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

Sáez González M et al.

Human Mutation, 2023

Gonadal mosaicism in GNAO1 causing neurodevelopmental disorder with involuntary movements; two additional variants.

Al Masseri Z et al.

Molecular Genetics and Metabolism Reports, 2022

Genetic modeling of GNAO1 disorder delineates mechanisms of Gαo dysfunction.

Wang D et al.

Human Molecular Genetics, 2022

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

Schirinzi T et al.

Parkinsonism & Related Disorders, 2019

Movement disorder in GNAO1 encephalopathy associated with gain-of-function mutations.

Feng H et al.

Neurology, 2017

A case of severe movement disorder with GNAO1 mutation responsive to topiramate.

Sakamoto S et al.

Brain & Development, 2017

GNAO1 encephalopathy: Broadening the phenotype and evaluating treatment and outcome.

Danti FR et al.

Neurology. Genetics, 2017

Recurrent GNAO1 Mutations Associated With Developmental Delay and a Movement Disorder.

Menke LA et al.

Journal of Child Neurology, 2016

Excellent response to deep brain stimulation in a young girl with GNAO1-related progressive choreoathetosis.

Yilmaz S et al.

Child's Nervous System : Chns : Official Journal of the International Society for Pediatric Neurosurgery, 2016

Clinical Course of Six Children With GNAO1 Mutations Causing a Severe and Distinctive Movement Disorder.

Ananth AL et al.

Pediatric Neurology, 2016

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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."