Varaico: Literature-Extracted Genetic Variants

Gene:SGCE
Variant:p.W270*
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SGCE

NM_003919.3:p.W270*

Associated Papers

Clinical and genotypic analysis in determining dystonia non-motor phenotypic heterogeneity: a UK Biobank study.

Wadon ME et al.

Journal of Neurology, 2022

35925398 (PubMed )
Supplement: 415_2022_11307_MOESM4_ESM.xlsx › Sheet1

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 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."