Varaico: Literature-Extracted Genetic Variants

Gene:NOTCH3
Variant:p.C522S
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NOTCH3

NM_000435.3:p.C522S

Associated Papers

Novel NOTCH3 mutation c.1564 T > A (p.Cys522Ser) presenting with early-onset Parkinsonism and white matter lesions.

Rifino N et al.

Clinical Parkinsonism & Related Disorders, 2025

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

Association of Vascular Risk Factors and Genetic Factors With Penetrance of Variants Causing Monogenic Stroke.

Cho BPH et al.

Jama Neurology, 2022

36300346 (PubMed )
Supplement: jamaneurol-e223832-s001.pdf

Elderly CADASIL patients with intact neurological status.

Zhang R et al.

Journal of Stroke, 2022

A novel Notch 3 mutation (pathogenic variant c.1565G>C) in CADASIL.

Rodriguez CA et al.

Neurologia, 2022

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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."