Varaico: Literature-Extracted Genetic Variants

Gene:GNAO1
Variant:p.L250F
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GNAO1

NM_020988.3:p.L250F

Associated Papers

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

Caregivers' Perspectives and Decision-Making on Deep Brain Stimulation in GNAO1-Related Disorders.

Domínguez-Carral J et al.

Neuromodulation : Journal of the International Neuromodulation Society, 2025

Molecular annotation of G protein variants in a neurological disorder.

Knight KM et al.

Cell Reports, 2023

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