Varaico: Literature-Extracted Genetic Variants

Gene:SGCE
Variant:p.S233delFs
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SGCE

NM_003919.3:p.S233delFs

Associated Papers

Prominent Lower-Limb Involvement in a Family with Myoclonus-Dystonia.

Kobylecki C et al.

Movement Disorders Clinical Practice, 2014

Defining the epsilon-sarcoglycan (SGCE) gene phenotypic signature in myoclonus-dystonia: a reappraisal of genetic testing criteria.

Carecchio M et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2013

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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."