Varaico: Literature-Extracted Genetic Variants

Gene:GNAO1
Variant:p.N270D
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GNAO1

NM_020988.3:p.N270D

Associated Papers

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

Katanaev VL et al.

Embo Molecular Medicine, 2025

Identification of three novel GNAO1 variants in a Chinese cohort with GNAO1 encephalopathy: expanding the clinical and genetic spectrum.

Mei D et al.

Orphanet Journal of Rare Diseases, 2025

Molecular annotation of G protein variants in a neurological disorder.

Knight KM et al.

Cell Reports, 2023

Phenotypes in children with GNAO1 encephalopathy in China.

Li Y et al.

Frontiers in Pediatrics, 2023

Comprehensive analysis of coding variants highlights genetic complexity in developmental and epileptic encephalopathy.

Takata A et al.

Nature Communications, 2019

31175295 (PubMed )
Supplement: 41467_2019_10482_MOESM5_ESM.xlsx › Supplementary_Data_2
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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."