Varaico: Literature-Extracted Genetic Variants

Gene:SPAG5
Variant:p.E203K
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SPAG5

NM_006461.4:p.E203K

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."