Varaico: Literature-Extracted Genetic Variants

Gene:SGCE
Variant:p.Q245fs
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SGCE

NM_003919.3:p.Q245fs

Associated Papers

First report of pathogenic SGCE variants in Mexican patients with myoclonus dystonia: A five-year follow-up study.

Dávila-Ortiz de Montellano DJ et al.

Parkinsonism & Related Disorders, 2020

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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."