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Clinical Deep Phenotyping of ABCA7 Mutation Carriers

BACKGROUND AND OBJECTIVES: Putative loss-of-function (pLOF) ABCA7 variants that increase Alzheimer disease (AD) risk were identified; however, deep phenotypic characterization of these variants in mutation carriers is limited. We aimed to obtain deep clinical phenotypes of ABCA7 pLOF mutation carrie...

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Detalles Bibliográficos
Autores principales:	Campbell, Alana S., Ho, Charlotte C.G., Atık, Merve, Allen, Mariet, Lincoln, Sarah, Malphrus, Kimberly, Nguyen, Thuy, Oatman, Stephanie R., Corda, Morgane, Conway, Olivia, Strickland, Samantha, Petersen, Ronald C., Dickson, Dennis W., Graff-Radford, Neill R., Ertekin-Taner, Nilüfer
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Wolters Kluwer 2022
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8759075/ https://www.ncbi.nlm.nih.gov/pubmed/35047668 http://dx.doi.org/10.1212/NXG.0000000000000655

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