Varaico: Literature-Extracted Genetic Variants

Gene:GNAO1
Variant:p.Q233fs
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GNAO1

NM_020988.3:p.Q233fs

Associated Papers

Loss of the conserved switch III region in a G protein leads to severe pediatric encephalopathy.

Savitsky M et al.

Science Signaling, 2025

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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."