Varaico: Literature-Extracted Genetic Variants

Gene:NOTCH3
Variant:p.C338R
Back to variants list

NOTCH3

NM_000435.3:p.C338R

Associated Papers

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

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

36535904 (PubMed )
Supplement: awac486_supplementary_data.pdf

Clinical and Genetic Aspects of CADASIL.

Mizuno T et al.

Frontiers in Aging Neuroscience, 2020

32457593 (PubMed )
Supplement: Table_1.DOCX

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

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

Bianchi S et al.

Journal of Neurology, 2015

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

Acetazolamide for the prophylaxis of migraine in CADASIL: a preliminary experience.

Donnini I et al.

The Journal of Headache and Pain, 2012

High lipoprotein(a) serum levels in three CADASIL families.

Valenti R et al.

Journal of Neurology, 2012

Genetics of ischemic stroke: inheritance of a sporadic disorder.

Ross OA et al.

Current Neurology and Neuroscience Reports, 2009

The spectrum of mutations for CADASIL diagnosis.

Federico A et al.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2005

The spectrum of Notch3 mutations in 28 Italian CADASIL families.

Dotti MT et al.

Journal of Neurology, Neurosurgery, and Psychiatry, 2005

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."