Varaico: Literature-Extracted Genetic Variants

Gene:GNAI1
Variant:p.C224Y
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GNAI1

NM_002069.6:p.C224Y

Associated Papers

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

Fritsche M et al.

Science Signaling, 2025

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

Katanaev VL et al.

Embo Molecular Medicine, 2025

Variants in GNAI1 cause a syndrome associated with variable features including developmental delay, seizures, and hypotonia.

Muir AM et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 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."