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Article

Broad phenotype of cysteine-altering NOTCH3 variants in UK Biobank: CADASIL to nonpenetrance.

Neurology - 29 Sept 2020

Rutten Julie W, Hack Remco J, Duering Marco, Gravesteijn Gido, Dauwerse Johannes G, Overzier Maurice, van den Akker Erik B, Slagboom Eline, Holstege Henne, Nho Kwangsik, Saykin Andrew, Dichgans Martin, Malik Rainer, Lesnik Oberstein Saskia A J

Abstract excerpt

OBJECTIVE: To determine the small vessel disease spectrum associated with cysteine-altering NOTCH3 variants in community-dwelling individuals by analyzing the clinical and neuroimaging features of UK Biobank participants harboring such variants. METHODS: The exome and genome sequencing datasets of the UK Biobank (n = 50,000) and cohorts of cognitively healthy elderly (n = 751) were queried for cysteine-altering...

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Identifiers

PMID: 32732295
DOI: 10.1212/WNL.0000000000010525
PMCID: PMC7682826

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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