Varaico: Literature-Extracted Genetic Variants

Gene:NOTCH3
Variant:p.Y220C
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NOTCH3

NM_000435.3:p.Y220C

Associated Papers

Tumor-informed circulating tumor DNA detection for personalized monitoring of treatment response in epithelial ovarian cancer.

Kang SW et al.

Practical Laboratory Medicine, 2025

40994830 (PubMed )
Supplement: mmc1.docx

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

A comprehensive analysis of somatic alterations in Chinese ovarian cancer patients.

Zhang Y et al.

Scientific Reports, 2021

Clinical and Genetic Aspects of CADASIL.

Mizuno T et al.

Frontiers in Aging Neuroscience, 2020

32457593 (PubMed )
Supplement: Table_1.DOCX

Interpretation of NOTCH3 mutations in the diagnosis of CADASIL.

Rutten JW et al.

Expert Review of Molecular Diagnostics, 2014

24844136 (PubMed )
Supplement: supplement_2.doc

Abnormal sensorimotor plasticity in CADASIL correlates with neuropsychological impairment.

Palomar FJ et al.

Journal of Neurology, Neurosurgery, and Psychiatry, 2013

Genome and transcriptome sequencing in prospective metastatic triple-negative breast cancer uncovers therapeutic vulnerabilities.

Craig DW et al.

Molecular Cancer Therapeutics, 2013

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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."