Varaico: Literature-Extracted Genetic Variants

Gene:HTATIP2
Variant:p.V203M
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HTATIP2

NM_001098522.2:p.V203M

Associated Papers

Mouse models characterize GNAO1 encephalopathy as a neurodevelopmental disorder leading to motor anomalies: from a severe G203R to a milder C215Y mutation.

Silachev D et al.

Acta Neuropathologica Communications, 2022

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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."