Varaico: Literature-Extracted Genetic Variants

Gene:NOTCH3
Variant:p.C440R
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NOTCH3

NM_000435.3:p.C440R

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

Clinical and Genetic Aspects of CADASIL.

Mizuno T et al.

Frontiers in Aging Neuroscience, 2020

32457593 (PubMed )
Supplement: Table_1.DOCX

CADASIL in central Italy: a retrospective clinical and genetic study in 229 patients.

Bianchi S et al.

Journal of Neurology, 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

CADASIL with cord involvement associated with a novel and atypical NOTCH3 mutation.

Bentley P et al.

Journal of Neurology, Neurosurgery, and Psychiatry, 2011

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

Genetics of ischemic stroke: inheritance of a sporadic disorder.

Ross OA et al.

Current Neurology and Neuroscience Reports, 2009

Characteristics of CADASIL in Chinese mainland patients.

Tan QC et al.

Neurology India, 0

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