Varaico: Literature-Extracted Genetic Variants

Gene:SGCE
Variant:p.G209insFs
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SGCE

NM_003919.3:p.G209insFs

Associated Papers

Prominent psychiatric comorbidity in the dominantly inherited movement disorder myoclonus-dystonia.

Weissbach A et al.

Parkinsonism & Related Disorders, 2013

Myoclonus-dystonia: significance of large SGCE deletions.

Grünewald A et al.

Human Mutation, 2008

Epsilon sarcoglycan mutations and phenotype in French patients with myoclonic syndromes.

Tezenas du Montcel S et al.

Journal of Medical Genetics, 2006

Familial cortical tremor with epilepsy and cerebellar pathological findings.

van Rootselaar AF et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2004

Evidence that paternal expression of the epsilon-sarcoglycan gene accounts for reduced penetrance in myoclonus-dystonia.

Müller B et al.

American Journal of Human Genetics, 2002

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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."