Varaico: Literature-Extracted Genetic Variants

Gene:NOTCH3
Variant:p.C440S
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NOTCH3

NM_000435.3:p.C440S

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

Headache and NOTCH3 Gene Variants in Patients with CADASIL.

Szymanowicz O et al.

Neurology International, 2023

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

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

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

Ungaro C et al.

Journal of Neuroscience Research, 2009

Genetics of ischemic stroke: inheritance of a sporadic disorder.

Ross OA et al.

Current Neurology and Neuroscience Reports, 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

The spectrum of Notch3 mutations in 28 Italian CADASIL families.

Dotti MT et al.

Journal of Neurology, Neurosurgery, and Psychiatry, 2005

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