Varaico: Literature-Extracted Genetic Variants

Gene:SGCE
Variant:p.L275*
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SGCE

NM_003919.3:p.L275*

Associated Papers

A South African family with myoclonus-dystonia syndrome with a novel mutation in the SGCE gene responding to deep brain stimulation.

van Coller R et al.

Parkinsonism & Related Disorders, 2019

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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."