Varaico: Literature-Extracted Genetic Variants

Gene:NOTCH3
Variant:p.C43S
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NOTCH3

NM_000435.3:p.C43S

Associated Papers

SNP and Structural Study of the Notch Superfamily Provides Insights and Novel Pharmacological Targets against the CADASIL Syndrome and Neurodegenerative Diseases.

Papageorgiou L et al.

Genes, 2024

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

A Study of Congenital Protein C Deficiency With Infancy Onset of CADASIL in a Chinese Baby.

Yuan X et al.

Journal of Pediatric Hematology/oncology, 2019

Novel heterozygous NOTCH3 pathogenic variant found in two Chinese patients with CADASIL.

Li S et al.

Journal of Clinical Neuroscience : Official Journal of the Neurosurgical Society of Australasia, 2017

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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."