Varaico: Literature-Extracted Genetic Variants

Gene:NOTCH3
Variant:p.N1207S
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NOTCH3

NM_000435.3:p.N1207S

Associated Papers

Phenotypes Associated with NOTCH3 Cysteine-Sparing Mutations in Patients with Clinical Suspicion of CADASIL: A Systematic Review.

Cao Y et al.

International Journal of Molecular Sciences, 2024

39201482 (PubMed )
Supplement: ijms-25-08796-s001.zip › ijms-3129956-supplementary.pdf

Activated leukocyte cell adhesion molecule/cluster of differentiation 166 rs10933819 (G>A) variant is associated with familial intracranial aneurysms.

Aitkulova A et al.

Biomedical Reports, 2022

35815187 (PubMed )
Supplement: Supplementary_Data.xlsx › 713_shortlisted_variants

Rare NOTCH3 Variants in a Chinese Population-Based Cohort and Its Relationship With Cerebral Small Vessel Disease.

Liu JY et al.

Stroke, 2021

Genetic analyses of early-onset Alzheimer's disease using next generation sequencing.

Giau VV et al.

Scientific Reports, 2019

31182772 (PubMed )
Supplement: 41598_2019_44848_MOESM1_ESM.pdf

Spectrum of NOTCH3 mutations in Korean patients with clinically suspicious cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy.

Kim YE et al.

Neurobiology of Aging, 2014

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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."