Varaico: Literature-Extracted Genetic Variants

Gene:NOTCH3
Variant:p.A198V
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NOTCH3

NM_000435.3:p.A198V

Associated Papers

Analysis of high-risk pedigrees identifies 11 candidate variants for Alzheimer's disease.

Teerlink CC et al.

Alzheimer's & Dementia : the Journal of the Alzheimer's Association, 2022

Molecular characterization of two Chinese pedigrees with maternally inherited hypertension.

Ding Y et al.

The Journal of Gene Medicine, 2021

Discovery of actionable genetic alterations with targeted panel sequencing in children with relapsed or refractory solid tumors.

Lee JW et al.

Plos One, 2019

31747416 (PubMed )
Supplement: pone.0224227.s002.xlsx › SNV

Novel clinicopathological and molecular characterization of metanephric adenoma: a study of 28 cases.

Ding Y et al.

Diagnostic Pathology, 2018

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."