Varaico: Literature-Extracted Genetic Variants

Gene:NOTCH3
Variant:p.C531G
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NOTCH3

NM_000435.3:p.C531G

Associated Papers

Association Between Vascular NOTCH3 Aggregation and Disease Severity in a CADASIL Cohort - Implications for NOTCH3 Variant-Specific Disease Prediction.

Cerfontaine MN et al.

Annals of Neurology, 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

Effect of NOTCH3 EGFr Group, Sex, and Cardiovascular Risk Factors on CADASIL Clinical and Neuroimaging Outcomes.

Hack RJ et al.

Stroke, 2022

35862191 (PubMed )
Supplement: str-53-3133-s001.pdf

NOTCH3 cysteine-altering variant is an important risk factor for stroke in the Taiwanese population.

Lee YC et al.

Neurology, 2020

Clinical and genetic characterization of leukoencephalopathies in adults.

Lynch DS et al.

Brain : a Journal of Neurology, 2017

Archetypal NOTCH3 mutations frequent in public exome: implications for CADASIL.

Rutten JW et al.

Annals of Clinical and Translational Neurology, 2016

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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."