Varaico: Literature-Extracted Genetic Variants

Gene:GNAI1
Variant:p.E14Q
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GNAI1

NM_002069.6:p.E14Q

Associated Papers

GNAI1 missense mutations associated with a neurodevelopmental syndrome modify Gαi1 function.

Fritsche M et al.

Science Signaling, 2025

A GNAI1 Pathogenic Variant in a Case with GNAO1-Isolated Dystonia: A Modifier of Disease Severity?

Monje MHG et al.

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

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