Varaico: Literature-Extracted Genetic Variants

Gene:NOTCH3
Variant:p.R607H
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NOTCH3

NM_000435.3:p.R607H

Associated Papers

Personalized and Tumor Informed Circulating Tumor DNA Assay for Molecular Residual Disease Monitoring of Solid Malignancies.

Liu L et al.

Medcomm, 2025

41346570 (PubMed )
Supplement: MCO2-6-e70483-s002.xlsx › Tumour_cellularity

Phenotypes Associated with NOTCH3 Cysteine-Sparing Mutations in Patients with Clinical Suspicion of CADASIL: A Systematic Review.

Cao Y et al.

International Journal of Molecular Sciences, 2024

39201482 (PubMed )
Supplement: ijms-25-08796-s001.zip › ijms-3129956-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

Headache and NOTCH3 Gene Variants in Patients with CADASIL.

Szymanowicz O et al.

Neurology International, 2023

Molecular subtyping and genomic profiling expand precision medicine in refractory metastatic triple-negative breast cancer: the FUTURE trial.

Jiang YZ et al.

Cell Research, 2021

32719455 (PubMed )
Supplement: 41422_2020_375_MOESM12_ESM.xlsx › Sheet1

NOTCH3 Variants and Genotype-Phenotype Features in Chinese CADASIL Patients.

Hu Y et al.

Frontiers in Genetics, 2021

Analysis of neurodegenerative disease-causing genes in dementia with Lewy bodies.

Orme T et al.

Acta Neuropathologica Communications, 2020

Targeted next generation sequencing identifies novel NOTCH3 gene mutations in CADASIL diagnostics patients.

Maksemous N et al.

Human Genomics, 2016

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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."