Varaico: Literature-Extracted Genetic Variants

Gene:NOTCH3
Variant:p.C533S
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NOTCH3

NM_000435.3:p.C533S

Associated Papers

A Novel Mutation in Exon 10 of the NOTCH3 Gene in Human Cerebral Microvascular Endothelial Cells Induces CADASIL-Like Pathology and the Therapeutic Effect of Edaravone Dexborneol on Hereditary and Non-hereditary Cerebral Small Vessel Disease.

Liu Y et al.

Neurochemical Research, 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

A Chinese CADASIL Family with a Novel Mutation on Exon 10 of Notch3 Gene.

Liu Y et al.

Journal of Stroke and Cerebrovascular Diseases : the Official Journal of National Stroke Association, 2021

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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."