Varaico: Literature-Extracted Genetic Variants

Gene:NOTCH3
Variant:p.C597W
Back to variants list

NOTCH3

NM_000435.3:p.C597W

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

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

Investigating diagnostic sequencing techniques for CADASIL diagnosis.

Dunn PJ et al.

Human Genomics, 2020

Targeted next generation sequencing identifies novel NOTCH3 gene mutations in CADASIL diagnostics patients.

Maksemous N et al.

Human Genomics, 2016

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."