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Three-tiered EGFr domain risk stratification for individualized NOTCH3-small vessel disease prediction

Cysteine-altering missense variants (NOTCH3(cys)) in one of the 34 epidermal growth-factor-like repeat (EGFr) domains of the NOTCH3 protein are the cause of NOTCH3-associated small vessel disease (NOTCH3-SVD). NOTCH3-SVD is highly variable, ranging from cerebral autosomal dominant arteriopathy with...

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Detalles Bibliográficos
Autores principales:	Hack, Remco J, Gravesteijn, Gido, Cerfontaine, Minne N, Santcroos, Mark A, Gatti, Laura, Kopczak, Anna, Bersano, Anna, Duering, Marco, Rutten, Julie W, Lesnik Oberstein, Saskia A J
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Oxford University Press 2022
Materias:	Original Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10316769/ https://www.ncbi.nlm.nih.gov/pubmed/36535904 http://dx.doi.org/10.1093/brain/awac486

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