Varaico: Literature-Extracted Genetic Variants

Gene:NOTCH3
Variant:p.G114Splc
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NOTCH3

NM_000435.3:p.G114Splc

Associated Papers

Systematic Genetic Assessment in Young Patients With Cryptogenic Stroke: The ES-EASY project.

Mania-Pâris L et al.

Stroke, 2026

Clinical features and spectrum of NOTCH3 variants in Finnish patients with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL).

Mönkäre S et al.

Acta Neurologica Scandinavica, 2022

36086804 (PubMed )
Supplement: ANE-146-643-s001.docx

Clinical and Genetic Aspects of CADASIL.

Mizuno T et al.

Frontiers in Aging Neuroscience, 2020

32457593 (PubMed )
Supplement: Table_1.DOCX

The genetic spectrum and the evaluation of CADASIL screening scale in Chinese patients with NOTCH3 mutations.

Liu X et al.

Journal of the Neurological Sciences, 2015

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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."