Varaico: Literature-Extracted Genetic Variants

Gene:NOTCH3
Variant:p.C134W
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NOTCH3

NM_000435.3:p.C134W

Associated Papers

Phase II clinical trial of nirogacestat in patients with relapsed ovarian granulosa cell tumours.

Grisham RN et al.

Clinical and Translational Medicine, 2026

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

"CADASIL coma" in an Italian homozygous CADASIL patient: comparison with clinical and MRI findings in age-matched heterozygous patients with the same G528C NOTCH3 mutation.

Ragno M et al.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2013

Genetics of ischemic stroke: inheritance of a sporadic disorder.

Ross OA et al.

Current Neurology and Neuroscience Reports, 2009

Reversible coma with raised intracranial pressure: an unusual clinical manifestation of CADASIL.

Feuerhake F et al.

Acta Neuropathologica, 2002

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

Joutel A et al.

Lancet (london, England), 2001

[CADASIL: genetics and physiopathology].

Joutel A et al.

Bulletin De L'academie Nationale De Medecine, 2000

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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."