Varaico: Literature-Extracted Genetic Variants

Gene:GNAO1
Variant:p.N270K
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GNAO1

NM_020988.3:p.N270K

Associated Papers

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

Phenotypes in children with GNAO1 encephalopathy in China.

Li Y et al.

Frontiers in Pediatrics, 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

Phenotypes of GNAO1 Variants in a Chinese Cohort.

Yang X et al.

Frontiers in Neurology, 2021

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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."