Varaico: Literature-Extracted Genetic Variants

Gene:NOTCH3
Variant:p.C222G
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NOTCH3

NM_000435.3:p.C222G

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

Elderly CADASIL patients with intact neurological status.

Zhang R et al.

Journal of Stroke, 2022

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

The spectrum of mutations for CADASIL diagnosis.

Federico A et al.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2005

Skin biopsy immunostaining with a Notch3 monoclonal antibody for CADASIL diagnosis.

Joutel A et al.

Lancet (london, England), 2001

Evaluation of DHPLC analysis in mutational scanning of Notch3, a gene with a high G-C content.

Escary JL et al.

Human Mutation, 2000

CADASIL: hereditary arteriopathy leading to multiple brain infarcts and dementia.

Viitanen M et al.

Annals of the New York Academy of Sciences, 2000

Small in-frame deletions and missense mutations in CADASIL: 3D models predict misfolding of Notch3 EGF-like repeat domains.

Dichgans M et al.

European Journal of Human Genetics : Ejhg, 2000

[CADASIL: genetics and physiopathology].

Joutel A et al.

Bulletin De L'academie Nationale De Medecine, 2000

CADASIL: hereditary disease of arteries causing brain infarcts and dementia.

Kalimo H et al.

Neuropathology and Applied Neurobiology, 1999

[CADASIL disease: a hereditary arterial disease leading to brain infarctions and dementia].

Kalimo H et al.

Duodecim; Laaketieteellinen Aikakauskirja, 1998

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."