Varaico: Literature-Extracted Genetic Variants

Gene:SGCE
Variant:p.R207delFs
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SGCE

NM_003919.3:p.R207delFs

Associated Papers

Myoclonus-dystonia and spinocerebellar ataxia type 14 presenting with similar phenotypes: trunk tremor, myoclonus, and dystonia.

Foncke EM et al.

Parkinsonism & Related Disorders, 2010

Myoclonus-dystonia: clinical and genetic evaluation of a large cohort.

Ritz K et al.

Journal of Neurology, Neurosurgery, and Psychiatry, 2009

Myoclonus-dystonia: significance of large SGCE deletions.

Grünewald A et al.

Human Mutation, 2008

Abnormal low frequency drive in myoclonus-dystonia patients correlates with presence of dystonia.

Foncke EM et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2007

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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."