Varaico: Literature-Extracted Genetic Variants

Gene:NOTCH3
Variant:p.C516F
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NOTCH3

NM_000435.3:p.C516F

Associated Papers

The Spectrum of NOTCH3 Variants in an Australian CADASIL Cohort.

Guyler SK et al.

Genes, 2025

41300806 (PubMed )
Supplement: genes-16-01353-s001.zip › genes-3932398-supplementary.pdf

Intracerebral hemorrhage in CADASIL.

Hsu SL et al.

Journal of the Chinese Medical Association : Jcma, 2025

The STROMICS genome study: deep whole-genome sequencing and analysis of 10K Chinese patients with ischemic stroke reveal complex genetic and phenotypic interplay.

Cheng S et al.

Cell Discovery, 2023

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

Hack RJ et al.

Brain : a Journal of Neurology, 2023

36535904 (PubMed )
Supplement: awac486_supplementary_data.pdf

Association of Vascular Risk Factors and Genetic Factors With Penetrance of Variants Causing Monogenic Stroke.

Cho BPH et al.

Jama Neurology, 2022

36300346 (PubMed )
Supplement: jamaneurol-e223832-s001.pdf

Detection of Vascular Notch3 Deposits in Unfixed Frozen Skin Biopsy Sample in CADASIL.

Ueda A et al.

Frontiers in Neurology, 2022

NOTCH3 variants are more common than expected in the general population and associated with stroke and vascular dementia: an analysis of 200 000 participants.

Cho BPH et al.

Journal of Neurology, Neurosurgery, and Psychiatry, 2021

33712516 (PubMed )
Supplement: jnnp-2020-325838supp001.pdf

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

Rutten JW et al.

Neurology, 2020

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."