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Frequency and Phenotype Associations of Rare Variants in 5 Monogenic Cerebral Small Vessel Disease Genes in 200,000 UK Biobank Participants

BACKGROUND AND OBJECTIVES: Based on previous case reports and disease-based cohorts, a minority of patients with cerebral small vessel disease (cSVD) have a monogenic cause, with many also manifesting extracerebral phenotypes. We investigated the frequency, penetrance, and phenotype associations of...

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Detalles Bibliográficos
Autores principales:	Ferguson, Amy Christina, Thrippleton, Sophie, Henshall, David, Whittaker, Ed, Conway, Bryan, MacLeod, Malcolm, Malik, Rainer, Rawlik, Konrad, Tenesa, Albert, Sudlow, Cathie, Rannikmae, Kristiina
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Wolters Kluwer 2022
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9403885/ https://www.ncbi.nlm.nih.gov/pubmed/36035235 http://dx.doi.org/10.1212/NXG.0000000000200015

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