Varaico: Literature-Extracted Genetic Variants

Gene:NOTCH3
Variant:p.R107W
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NOTCH3

NM_000435.3:p.R107W

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

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

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

Prevalence of CADASIL and Fabry Disease in a Cohort of MRI Defined Younger Onset Lacunar Stroke.

Kilarski LL et al.

Plos One, 2015

A series of Notch3 mutations in CADASIL; insights from 3D molecular modelling and evolutionary analyses.

Vlachakis D et al.

Journal of Molecular Biochemistry, 2014

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

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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."