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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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Bibliografiske detaljer
Udgivet i:Tremor Other Hyperkinet Mov (N Y)
Hovedforfatter: LeDoux, Mark S.
Format: Artigo
Sprog:Inglês
Udgivet: Ubiquity Press 2020
Fag:
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC7646276/
https://ncbi.nlm.nih.gov/pubmed/33200041
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.5334/tohm.567
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