Varaico: Literature-Extracted Genetic Variants

Gene:NOTCH3
Variant:p.C185Y
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NOTCH3

NM_000435.3:p.C185Y

Associated Papers

[Geographic Distribution of Patients with CADASIL in Japan].

Mukai M et al.

Rinsho Shinkeigaku = Clinical Neurology, 2025

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

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

Genotype and Phenotype Differences in CADASIL from an Asian Perspective.

Kim Y et al.

International Journal of Molecular Sciences, 2022

NOTCH3 Variants and Genotype-Phenotype Features in Chinese CADASIL Patients.

Hu Y et al.

Frontiers in Genetics, 2021

Clinical and Genetic Aspects of CADASIL.

Mizuno T et al.

Frontiers in Aging Neuroscience, 2020

32457593 (PubMed )
Supplement: Table_1.DOCX

Novel Characteristics of Race-Specific Genetic Functions in Korean CADASIL.

Kim Y et al.

Medicina (kaunas, Lithuania), 2019

Genotypic and phenotypic spectrum of CADASIL in Japan: the experience at a referral center in Kumamoto University from 1997 to 2014.

Ueda A et al.

Journal of Neurology, 2015

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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."