Varaico: Literature-Extracted Genetic Variants

Gene:NOTCH3
Variant:p.C106G
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NOTCH3

NM_000435.3:p.C106G

Associated Papers

Middle cerebral artery dissection in a patient with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy.

Mitsutake A

Qjm : Monthly Journal of the Association of Physicians, 2024

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

Two novel mutations in NOTCH3 gene causes cerebral autosomal dominant arteriopathy with subcritical infarct and leucoencephalopathy in two Chinese families.

Zhu Y et al.

International Journal of Clinical and Experimental Pathology, 2015

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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."