Varaico: Literature-Extracted Genetic Variants

Gene:NOTCH3
Variant:p.R1190H
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NOTCH3

NM_000435.3:p.R1190H

Associated Papers

Phase II clinical trial of nirogacestat in patients with relapsed ovarian granulosa cell tumours.

Grisham RN et al.

Clinical and Translational Medicine, 2026

Genome sequencing reveals the role of rare genomic variants in Chinese patients with symptomatic intracranial atherosclerotic disease.

Shi M et al.

Stroke and Vascular Neurology, 2022

34880113 (PubMed )
Supplement: svn-2021-001157supp001.pdf

A Functional Variant Rs492554 Associated With Congenital Heart Defects Modulates SESN2 Expression Through POU2F1.

Yang W et al.

Frontiers in Cell and Developmental Biology, 2021

34249922 (PubMed )
Supplement: Table_1.xls › D1D2D3

Frequency and distribution of Notch mutations in tumor cell lines.

Mutvei AP et al.

Bmc Cancer, 2015

25907971 (PubMed )
Supplement: 12885_2015_1278_MOESM2_ESM.xlsx › suppdatagrejen

Exome sequencing reveals comprehensive genomic alterations across eight cancer cell lines.

Chang H et al.

Plos One, 2011

21701589 (PubMed )
Supplement: pone.0021097.s002.xls › a2780_f40r3
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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."