Varaico: Literature-Extracted Genetic Variants

Gene:SGCE
Variant:p.E70*
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SGCE

NM_003919.3:p.E70*

Associated Papers

Population Prevalence of Deleterious SGCE Variants.

LeDoux MS

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

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

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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."