Varaico: Literature-Extracted Genetic Variants

Gene:NOTCH3
Variant:p.C579R
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NOTCH3

NM_000435.3:p.C579R

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

Exploring the genetic frontier: Unraveling ANRIL, PAI-1, and HNF1α in stroke progression.

Hamadi A et al.

Plos One, 2025

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

Clinical and epidemiological profiles from a case series of 26 Brazilian CADASIL patients.

Nogueira R et al.

Arquivos De Neuro-psiquiatria, 2023

Investigating diagnostic sequencing techniques for CADASIL diagnosis.

Dunn PJ et al.

Human Genomics, 2020

Clinical and Genetic Aspects of CADASIL.

Mizuno T et al.

Frontiers in Aging Neuroscience, 2020

32457593 (PubMed )
Supplement: Table_1.DOCX

The Association Between the Genetic Variants of the NOTCH3 Gene and Ischemic Stroke Risk.

Yuan X et al.

Medical Science Monitor : International Medical Journal of Experimental and Clinical Research, 2016

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

Two novel mutations and a previously unreported intronic polymorphism in the NOTCH3 gene.

Roy B et al.

Mutation Research, 2012

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