Varaico: Literature-Extracted Genetic Variants

Gene:NOTCH3
Variant:p.G595C
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NOTCH3

NM_000435.3:p.G595C

Associated Papers

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

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

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
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