Varaico: Literature-Extracted Genetic Variants

Gene:NOTCH3
Variant:p.C568Y
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NOTCH3

NM_000435.3:p.C568Y

Associated Papers

Association Between Vascular NOTCH3 Aggregation and Disease Severity in a CADASIL Cohort - Implications for NOTCH3 Variant-Specific Disease Prediction.

Cerfontaine MN et al.

Annals of Neurology, 2025

40265482 (PubMed )
Supplement: ANA-98-273-s001.docx

SNP and Structural Study of the Notch Superfamily Provides Insights and Novel Pharmacological Targets against the CADASIL Syndrome and Neurodegenerative Diseases.

Papageorgiou L et al.

Genes, 2024

Headache and NOTCH3 Gene Variants in Patients with CADASIL.

Szymanowicz O et al.

Neurology International, 2023

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

Hack RJ et al.

Brain : a Journal of Neurology, 2023

Effect of NOTCH3 EGFr Group, Sex, and Cardiovascular Risk Factors on CADASIL Clinical and Neuroimaging Outcomes.

Hack RJ et al.

Stroke, 2022

35862191 (PubMed )
Supplement: str-53-3133-s001.pdf

Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy Family Members With a Pathogenic NOTCH3 Variant Can Have a Normal Brain Magnetic Resonance Imaging and Skin Biopsy Beyond Age 50 Years.

Hack RJ et al.

Stroke, 2022

NOTCH3 variant position is associated with NOTCH3 aggregation load in CADASIL vasculature.

Gravesteijn G et al.

Neuropathology and Applied Neurobiology, 2022

Clinical and Genetic Aspects of CADASIL.

Mizuno T et al.

Frontiers in Aging Neuroscience, 2020

32457593 (PubMed )
Supplement: Table_1.DOCX

Interpretation of NOTCH3 mutations in the diagnosis of CADASIL.

Rutten JW et al.

Expert Review of Molecular Diagnostics, 2014

24844136 (PubMed )
Supplement: supplement_2.doc

Genetics of ischemic stroke: inheritance of a sporadic disorder.

Ross OA et al.

Current Neurology and Neuroscience Reports, 2009

Evaluation of DHPLC analysis in mutational scanning of Notch3, a gene with a high G-C content.

Escary JL et al.

Human Mutation, 2000

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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."