Varaico: Literature-Extracted Genetic Variants

Gene:NOTCH3
Variant:p.W1003C
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NOTCH3

NM_000435.3:p.W1003C

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

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

Detection of Vascular Notch3 Deposits in Unfixed Frozen Skin Biopsy Sample in CADASIL.

Ueda A et al.

Frontiers in Neurology, 2022

Novel dot-blot assay for detection of vascular Notch3 aggregates in patients with CADASIL.

Ma Y et al.

Journal of the Neurological Sciences, 2020

A Novel Heterozygous Variant in Exon 19 of NOTCH3 in a Saudi Family with Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy.

Algahtani H et al.

Journal of Stroke and Cerebrovascular Diseases : the Official Journal of National Stroke Association, 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."