Varaico: Literature-Extracted Genetic Variants

Gene:NOTCH3
Variant:p.C117R
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NOTCH3

NM_000435.3:p.C117R

Associated Papers

Predictive Accuracy of a Clinical Model for Carriage of Pathogenic/Likely Pathogenic Variants in Patients with Dementia and a Positive Family History at PUMCH.

Bao J et al.

Biomedicines, 2025

40427062 (PubMed )
Supplement: biomedicines-13-01235-s001.zip › Supplement_Table_S8.xlsx › PART2

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

Clinical and Genetic Aspects of CADASIL.

Mizuno T et al.

Frontiers in Aging Neuroscience, 2020

32457593 (PubMed )
Supplement: Table_1.DOCX

Clinical Features of 4 Novel NOTCH3 Mutations of Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy in China.

Qin W et al.

Medical Science Monitor Basic Research, 2019

The role of clinical and neuroimaging features in the diagnosis of CADASIL.

Bersano A et al.

Journal of Neurology, 2018

Clinical Pregenetic Screening for Stroke Monogenic Diseases: Results From Lombardia GENS Registry.

Bersano A et al.

Stroke, 2016

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

NOTCH3 gene mutations in subjects clinically suspected of CADASIL.

Mosca L et al.

Journal of the Neurological Sciences, 2011

NOTCH3 mutations and clinical features in 33 mainland Chinese families with CADASIL.

Wang Z et al.

Journal of Neurology, Neurosurgery, and Psychiatry, 2011

Report of two Chinese families and a review of Mainland Chinese CADASIL patients.

Yin XZ et al.

Journal of the Neurological Sciences, 2009

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