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Population Prevalence of Deleterious SGCE Variants
BACKGROUND: Myoclonus-Dystonia (M-D) is a pleiotropic neuropsychiatric disorder of variable penetrance. Pathogenic variants in SGCE, a maternally imprinted gene, are the most frequent known genetic cause of M-D. The population prevalence of SGCE-linked M-D is unknown, the pathogenicity of SGCE varia...
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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Ubiquity Press
2020
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7646276/ https://www.ncbi.nlm.nih.gov/pubmed/33200041 http://dx.doi.org/10.5334/tohm.567 |