Varaico: Literature-Extracted Genetic Variants

Gene:NOTCH3
Variant:p.C1099Y
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NOTCH3

NM_000435.3:p.C1099Y

Associated Papers

Intracerebral hemorrhage in CADASIL.

Hsu SL et al.

Journal of the Chinese Medical Association : Jcma, 2025

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

Spinal Metastasis in a Patient with Supratentorial Glioblastoma with Primitive Neuronal Component: A Case Report with Clinical and Molecular Evaluation.

Hendrych M et al.

Diagnostics (basel, Switzerland), 2023

Elderly CADASIL patients with intact neurological status.

Zhang R et al.

Journal of Stroke, 2022

NOTCH3 mutations in a cohort of Portuguese patients within CADASIL spectrum phenotype.

Almeida MR et al.

Neurogenetics, 2022

Intracerebral hemorrhage in CADASIL.

Palazzo P et al.

Revue Neurologique, 2021

Clinical and Genetic Aspects of CADASIL.

Mizuno T et al.

Frontiers in Aging Neuroscience, 2020

32457593 (PubMed )
Supplement: Table_1.DOCX

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
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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."