Varaico: Literature-Extracted Genetic Variants

Gene:SGCE
Variant:p.G78Splc
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SGCE

NM_003919.3:p.G78Splc

Associated Papers

Population Prevalence of Deleterious SGCE Variants.

LeDoux MS

Tremor and Other Hyperkinetic Movements (new York, N.y.), 2020

A neurophysiological study of myoclonus in patients with DYT11 myoclonus-dystonia syndrome.

Marelli C et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2008

Myoclonus-dystonia: significance of large SGCE deletions.

Grünewald A et al.

Human Mutation, 2008

Myoclonus-dystonia syndrome: clinical presentation, disease course, and genetic features in 11 families.

Nardocci N et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2008

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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."