Varaico: Literature-Extracted Genetic Variants

Gene:NOTCH3
Variant:p.C1009F
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NOTCH3

NM_000435.3:p.C1009F

Associated Papers

A Novel Mutation of the NOTCH3 Gene in A Young Patient Presenting with an Acute Stroke: Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL).

Ragab I et al.

European Journal of Case Reports in Internal Medicine, 2025

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

Genotype-phenotype correlations and effect of mutation location in Japanese CADASIL patients.

Mukai M et al.

Journal of Human Genetics, 2020

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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."