Varaico: Literature-Extracted Genetic Variants

Gene:NOTCH3
Variant:p.C134Y
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NOTCH3

NM_000435.3:p.C134Y

Associated Papers

Assessment of Small Vessel Density Changes in Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalophy (CADASIL) by High-Resolution Black-Blood MRI.

Yang Z et al.

Journal of Magnetic Resonance Imaging : Jmri, 2026

40838861 (PubMed )
Supplement: JMRI-63-157-s001.pdf

Genetic and imaging features of CADASIL patients with acute ischemic stroke.

Park JY et al.

Scientific Reports, 2025

40379656 (PubMed )
Supplement: 41598_2025_220_MOESM1_ESM.docx

Pro-Hemorrhagic Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy Associated with NOTCH3 p.R75P Mutation with Low Vascular NOTCH3 Aggregation Property.

Ishiyama H et al.

Annals of Neurology, 2024

38520151 (PubMed )
Supplement: supplement_1.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

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

High Diagnostic Utility Incorporating a Targeted Neurodegeneration Gene Panel With MRI Brain Diagnostic Algorithms in Patients With Young-Onset Cognitive Impairment With Leukodystrophy.

Chen Z et al.

Frontiers in Neurology, 2021

Clinical and imaging features of patients with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy and cysteine-sparing NOTCH3 mutations.

Kim H et al.

Plos One, 2020

32555735 (PubMed )
Supplement: pone.0234797.s002.xlsx › Dataset

Location, number and factors associated with cerebral microbleeds in an Italian-British cohort of CADASIL patients.

Nannucci S et al.

Plos One, 2018

29370179 (PubMed )
Supplement: pone.0190878.s001.xls › CMB_database

Clinical features and mutation spectrum in Chinese patients with CADASIL: A multicenter retrospective study.

Chen S et al.

Cns Neuroscience & Therapeutics, 2017

CADASIL in central Italy: a retrospective clinical and genetic study in 229 patients.

Bianchi S et al.

Journal of Neurology, 2015

Genetics of ischemic stroke: inheritance of a sporadic disorder.

Ross OA et al.

Current Neurology and Neuroscience Reports, 2009

Characteristics of CADASIL in Chinese mainland patients.

Tan QC et al.

Neurology India, 0

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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."