Varaico: Literature-Extracted Genetic Variants

Gene:NOTCH3
Variant:p.G149C
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NOTCH3

NM_000435.3:p.G149C

Associated Papers

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

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

Structural changes in NOTCH3 induced by CADASIL mutations: Role of cysteine and non-cysteine alterations.

Lee SJ et al.

The Journal of Biological Chemistry, 2023

Clinical and Genetic Aspects of CADASIL.

Mizuno T et al.

Frontiers in Aging Neuroscience, 2020

32457593 (PubMed )
Supplement: Table_1.DOCX

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

Fernández A et al.

Journal of Molecular Neuroscience : Mn, 2015

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

A novel cysteine-sparing NOTCH3 mutation in a Chinese family with CADASIL.

Ge W et al.

Plos One, 2014

Genetics of ischemic stroke: inheritance of a sporadic disorder.

Ross OA et al.

Current Neurology and Neuroscience Reports, 2009

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