Varaico: Literature-Extracted Genetic Variants

Gene:NOTCH3
Variant:p.C408Y
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NOTCH3

NM_000435.3:p.C408Y

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

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

Systematic Review of Cerebral Phenotypes Associated With Monogenic Cerebral Small-Vessel Disease.

Whittaker E et al.

Journal of the American Heart Association, 2022

Characterization of CADASIL among the Han Chinese in Taiwan: Distinct Genotypic and Phenotypic Profiles.

Liao YC et al.

Plos One, 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."