Varaico: Literature-Extracted Genetic Variants

Gene:NOTCH3
Variant:p.R1100C
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NOTCH3

NM_000435.3:p.R1100C

Associated Papers

Cysteine-Altering NOTCH3 Variants Are Associated with an Increased Risk of Autoimmune Diseases.

Rieder E et al.

Journal of Clinical Medicine, 2023

37834922 (PubMed )
Supplement: jcm-12-06278-s001.zip › jcm-2609480-supplementary.pdf

The STROMICS genome study: deep whole-genome sequencing and analysis of 10K Chinese patients with ischemic stroke reveal complex genetic and phenotypic interplay.

Cheng S et al.

Cell Discovery, 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

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

NOTCH3 variants are more common than expected in the general population and associated with stroke and vascular dementia: an analysis of 200 000 participants.

Cho BPH et al.

Journal of Neurology, Neurosurgery, and Psychiatry, 2021

33712516 (PubMed )
Supplement: jnnp-2020-325838supp001.pdf

Mutations in NOTCH3 Gene may Promote the Clinical Presentation of Spinocerebellar Ataxia Type 37 Caused by Mutations in DAB1 Gene.

Wang ZW et al.

Frontiers in Molecular Biosciences, 2021

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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."