Varaico: Literature-Extracted Genetic Variants

Gene:NOTCH3
Variant:p.G296C
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NOTCH3

NM_000435.3:p.G296C

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

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy revisited: Genotype-phenotype correlations of all published cases.

Xiromerisiou G et al.

Neurology. Genetics, 2020

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

Clinical spectrum in CADASIL family with a new mutation.

Peisker T et al.

Biomedical Papers of the Medical Faculty of the University Palacky, Olomouc, Czechoslovakia, 2013

[CADASIL: brief report on a family with a new p.G296C mutation in exon 6 of the Notch-3 gene].

García-Estévez DA et al.

Revista De Neurologia, 2010

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