Varaico: Literature-Extracted Genetic Variants

Gene:NOTCH3
Variant:p.C183F
Back to variants list

NOTCH3

NM_000435.3:p.C183F

Associated Papers

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

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

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL): a patient from Sri Lanka.

De Silva KR et al.

Journal of Clinical Neuroscience : Official Journal of the Neurosurgical Society of Australasia, 2009

CADASIL mutations enhance spontaneous multimerization of NOTCH3.

Opherk C et al.

Human Molecular Genetics, 2009

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."