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Article

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

Brain : a journal of neurology - 3 Jul 2023

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

Abstract excerpt

Cysteine-altering missense variants (NOTCH3cys) 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 subcortical infarcts and leukoencephalopathy (CADASIL) at the severe end of the spectrum to non-penetrance. The...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 36535904
DOI: 10.1093/brain/awac486
PMCID: PMC10316769

Provenance

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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