Varaico: Literature-Extracted Genetic Variants

Gene:NOTCH3
Variant:p.C318F
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NOTCH3

NM_000435.3:p.C318F

Associated Papers

The Spectrum of NOTCH3 Variants in an Australian CADASIL Cohort.

Guyler SK et al.

Genes, 2025

41300806 (PubMed )
Supplement: genes-16-01353-s001.zip › genes-3932398-supplementary.pdf

Association Between Vascular NOTCH3 Aggregation and Disease Severity in a CADASIL Cohort - Implications for NOTCH3 Variant-Specific Disease Prediction.

Cerfontaine MN et al.

Annals of Neurology, 2025

40265482 (PubMed )
Supplement: ANA-98-273-s001.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

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

Association of Vascular Risk Factors and Genetic Factors With Penetrance of Variants Causing Monogenic Stroke.

Cho BPH et al.

Jama Neurology, 2022

36300346 (PubMed )
Supplement: jamaneurol-e223832-s001.pdf

Effect of NOTCH3 EGFr Group, Sex, and Cardiovascular Risk Factors on CADASIL Clinical and Neuroimaging Outcomes.

Hack RJ et al.

Stroke, 2022

35862191 (PubMed )
Supplement: str-53-3133-s001.pdf

Investigating diagnostic sequencing techniques for CADASIL diagnosis.

Dunn PJ et al.

Human Genomics, 2020

Nuclear abnormalities in vascular myocytes in cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL).

Dziewulska D et al.

Neuropathology : Official Journal of the Japanese Society of Neuropathology, 2018

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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."