Varaico: Literature-Extracted Genetic Variants

Gene:NOTCH3
Variant:p.R207H
Back to variants list

NOTCH3

NM_000435.3:p.R207H

Associated Papers

Phenotypes Associated with NOTCH3 Cysteine-Sparing Mutations in Patients with Clinical Suspicion of CADASIL: A Systematic Review.

Cao Y et al.

International Journal of Molecular Sciences, 2024

39201482 (PubMed )
Supplement: ijms-25-08796-s001.zip › ijms-3129956-supplementary.pdf

Durable benefit from immunotherapy and accompanied lupus erythematosus in pancreatic adenocarcinoma with DNA repair deficiency.

Pang X et al.

Journal for Immunotherapy of Cancer, 2020

32636238 (PubMed )
Supplement: jitc-2019-000463supp001.pdf

Genetic Factors of Cerebral Small Vessel Disease and Their Potential Clinical Outcome.

Giau VV et al.

International Journal of Molecular Sciences, 2019

Vascular cognitive impairment associated with NOTCH3 Exon 33 mutation: A case report.

Sun Y et al.

Medicine, 2019

Systematic Review of Cysteine-Sparing NOTCH3 Missense Mutations in Patients with Clinical Suspicion of CADASIL.

Muiño E et al.

International Journal of Molecular Sciences, 2017

CADASIL: extended polymorphisms and mutational analysis of the NOTCH3 gene.

Ungaro C et al.

Journal of Neuroscience Research, 2009

Gene symbol: NOTCH3. Disease: CADASIL.

Ungaro C et al.

Human Genetics, 2008

Gene symbol: NOTCH3. Disease: CADASIL.

Ungaro C et al.

Human Genetics, 2008

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."