Varaico: Literature-Extracted Genetic Variants

Gene:NOTCH3
Variant:p.C212W
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NOTCH3

NM_000435.3:p.C212W

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

Genotypic and Phenotypic Characteristics of Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy from China.

Zhang C et al.

European Neurology, 2021

Clinical and Genetic Aspects of CADASIL.

Mizuno T et al.

Frontiers in Aging Neuroscience, 2020

32457593 (PubMed )
Supplement: Table_1.DOCX

Clinical features and mutation spectrum in Chinese patients with CADASIL: A multicenter retrospective study.

Chen S et al.

Cns Neuroscience & Therapeutics, 2017

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

Unusual clinical presentations in subjects carrying novel NOTCH3 gene mutations.

Spinicci G et al.

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

[A cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy pedigree: clinical pathology, neuroimaging and molecular genetics studies].

Chang MZ et al.

Sichuan Da Xue Xue Bao. Yi Xue Ban = Journal of Sichuan University. Medical Science Edition, 2011

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