Varaico: Literature-Extracted Genetic Variants

Gene:NOTCH3
Variant:p.C340Y
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NOTCH3

NM_000435.3:p.C340Y

Associated Papers

A Novel Rare PSEN2 Val226Ala in PSEN2 in a Korean Patient with Atypical Alzheimer's Disease, and the Importance of PSEN2 5th Transmembrane Domain (TM5) in AD Pathogenesis.

Yang Y et al.

International Journal of Molecular Sciences, 2024

39273625 (PubMed )
Supplement: ijms-25-09678-s001.zip › ijms-3093212-supplementary.pdf

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

Inherited neurovascular diseases affecting cerebral blood vessels and smooth muscle.

Sam C et al.

Metabolic Brain Disease, 2015

Mutational screening of NOTCH3 gene reveals two novel mutations: complexity of CADASIL diagnosis.

Mosca L et al.

Journal of Molecular Neuroscience : Mn, 2014

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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."