Varaico: Literature-Extracted Genetic Variants

Gene:NOTCH3
Variant:p.C278R
Back to variants list

NOTCH3

NM_000435.3:p.C278R

Associated Papers

CADASIL: A NOTCH3-associated cerebral small vessel disease.

Yuan L et al.

Journal of Advanced Research, 2024

38176524 (PubMed )
Supplement: mmc1.doc

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

Novel mutations in HTRA1-related cerebral small vessel disease and comparison with CADASIL.

Zhang C et al.

Annals of Clinical and Translational Neurology, 2022

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

Kim Y et al.

Medicina (kaunas, Lithuania), 2019

A Next-Generation Sequencing of the NOTCH3 and HTRA1 Genes in CADASIL Patients.

Fernández A et al.

Journal of Molecular Neuroscience : Mn, 2015

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."