Varaico: Literature-Extracted Genetic Variants

Gene:GNAO1
Variant:p.E246V
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GNAO1

NM_020988.3:p.E246V

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

GNAO1 Mutations Affecting the N-Terminal α-Helix of Gαo Lead to Parkinsonism.

Solis GP et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2024

Highlighting the Dystonic Phenotype Related to GNAO1.

Wirth T et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2022

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