Varaico: Literature-Extracted Genetic Variants

Gene:NOTCH3
Variant:p.C446Y
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NOTCH3

NM_000435.3:p.C446Y

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

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

CADASIL presenting with focal and generalised epilepsy due to a novel NOTCH3 mutation.

Chen BS et al.

Seizure, 2019

3T MRI study discloses high intrafamilial variability in CADASIL due to a novel NOTCH3 mutation.

La Piana R et al.

Journal of Clinical Neuroscience : Official Journal of the Neurosurgical Society of Australasia, 2018

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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."