Varaico: Literature-Extracted Genetic Variants

Gene:NOTCH3
Variant:p.R75G
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NOTCH3

NM_000435.3:p.R75G

Associated Papers

Light-chain split luciferase assay implicates pathological NOTCH3 thiol reactivity in inherited cerebral small vessel disease.

Cartee NMP et al.

The Journal of Biological Chemistry, 2025

Progress to Clarify How NOTCH3 Mutations Lead to CADASIL, a Hereditary Cerebral Small Vessel Disease.

Mizuta I et al.

Biomolecules, 2024

Structural changes in NOTCH3 induced by CADASIL mutations: Role of cysteine and non-cysteine alterations.

Lee SJ et al.

The Journal of Biological Chemistry, 2023

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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."