Varaico: Literature-Extracted Genetic Variants

Gene:NOTCH3
Variant:p.P2178S
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NOTCH3

NM_000435.3:p.P2178S

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

Rare variant aggregation in 148,508 exomes identifies genes associated with proxy dementia.

Wightman DP et al.

Scientific Reports, 2023

36750708 (PubMed )
Supplement: 41598_2023_29108_MOESM1_ESM.xlsx › Supp_T11

Aberrant Signaling Pathways in Sinonasal Intestinal-Type Adenocarcinoma.

Riobello C et al.

Cancers, 2021

34638506 (PubMed )
Supplement: cancers-13-05022-s001.zip › cancers-1416120-supplementary.pdf

Customized Massive Parallel Sequencing Panel for Diagnosis of Pulmonary Arterial Hypertension.

Castaño JAT et al.

Genes, 2020

Investigating diagnostic sequencing techniques for CADASIL diagnosis.

Dunn PJ et al.

Human Genomics, 2020

A systematic review of genetic mutations in pulmonary arterial hypertension.

Garcia-Rivas G et al.

Bmc Medical Genetics, 2017

28768485 (PubMed )
Supplement: 12881_2017_440_MOESM1_ESM.xlsx › table-mutations-per-gene

Common genetic etiology between "multiple sclerosis-like" single-gene disorders and familial multiple sclerosis.

Traboulsee AL et al.

Human Genetics, 2017

Next generation sequencing of the NOTCH3 gene in a cohort of pulmonary hypertension patients.

Gómez J et al.

International Journal of Cardiology, 2016

A Next-Generation Sequencing of the NOTCH3 and HTRA1 Genes in CADASIL Patients.

Fernández A et al.

Journal of Molecular Neuroscience : Mn, 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."