Varaico: Literature-Extracted Genetic Variants

Gene:NOTCH3
Variant:p.C478Y
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NOTCH3

NM_000435.3:p.C478Y

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

CADASIL with a novel NOTCH3 mutation (Cys478Tyr).

Ozaki K et al.

Journal of Stroke and Cerebrovascular Diseases : the Official Journal of National Stroke Association, 2015

Neoplastic lesions in CADASIL syndrome: report of an autopsied Japanese case.

Hassan WA 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."