Varaico: Literature-Extracted Genetic Variants

Gene:NOTCH3
Variant:p.C516Y
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NOTCH3

NM_000435.3:p.C516Y

Associated Papers

First report of a p.Cys484Tyr Notch3 mutation in a CADASIL patient with acute bilateral multiple subcortical infarcts-case report and brief review.

Liu W et al.

Bmc Neurology, 2024

Headache and NOTCH3 Gene Variants in Patients with CADASIL.

Szymanowicz O et al.

Neurology International, 2023

Four Novel Disease-Causing Variants in the NOTCH3 Gene in Russian Patients with CADASIL.

Bostanova F et al.

Genes, 2023

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
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