Varaico: Literature-Extracted Genetic Variants

Gene:NOTCH3
Variant:p.C311G
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NOTCH3

NM_000435.3:p.C311G

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

Case report: Mild leukoencephalopathy caused by a new mutation of NOTCH3 gene.

Qi Y et al.

Medicine, 2023

Clinical features and spectrum of NOTCH3 variants in Finnish patients with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL).

Mönkäre S et al.

Acta Neurologica Scandinavica, 2022

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."