Varaico: Literature-Extracted Genetic Variants

Gene:NOTCH3
Variant:p.C93F
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NOTCH3

NM_000435.3:p.C93F

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

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

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

Genetics of ischemic stroke: inheritance of a sporadic disorder.

Ross OA et al.

Current Neurology and Neuroscience Reports, 2009

Peripheral nerve and skeletal muscle involvement in CADASIL.

Schröder JM et al.

Acta Neuropathologica, 2005

Cerebral microbleeds in CADASIL: a gradient-echo magnetic resonance imaging and autopsy study.

Dichgans M et al.

Stroke, 2002

NOTCH3 mutation involving three cysteine residues in a family with typical CADASIL.

Dichgans M et al.

Neurology, 2001

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