Varaico: Literature-Extracted Genetic Variants

Gene:NOTCH3
Variant:p.C260G
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NOTCH3

NM_000435.3:p.C260G

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

Clinical and Genetic Aspects of CADASIL.

Mizuno T et al.

Frontiers in Aging Neuroscience, 2020

32457593 (PubMed )
Supplement: Table_1.DOCX

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

Kim Y et al.

Medicina (kaunas, Lithuania), 2019

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

The first Indian-origin family with genetically proven cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL).

Yadav S et al.

Journal of Stroke and Cerebrovascular Diseases : the Official Journal of National Stroke Association, 2013

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL): a patient from Sri Lanka.

De Silva KR et al.

Journal of Clinical Neuroscience : Official Journal of the Neurosurgical Society of Australasia, 2009

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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."