Varaico: Literature-Extracted Genetic Variants

Gene:NOTCH3
Variant:p.E166D
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NOTCH3

NM_000435.3:p.E166D

Associated Papers

First report of a p.Cys484Tyr Notch3 mutation in a CADASIL patient with acute bilateral multiple subcortical infarcts-case report and brief review.

Liu W et al.

Bmc Neurology, 2024

CADASIL from Bench to Bedside: Disease Models and Novel Therapeutic Approaches.

Manini A et al.

Molecular Neurobiology, 2021

Naturally occurring NOTCH3 exon skipping attenuates NOTCH3 protein aggregation and disease severity in CADASIL patients.

Gravesteijn G et al.

Human Molecular Genetics, 2020

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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."