Varaico: Literature-Extracted Genetic Variants

Gene:NOTCH2
Variant:p.Q2325*
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NOTCH2

NM_024408.4:p.Q2325*

Associated Papers

Noninvasive genotyping and early disease dynamics demonstrate the efficacy of ibrutinib in combination with immunochemotherapy in patients with mantle cell lymphoma treated in the TRIANGLE trial.

Khouja M et al.

Leukemia, 2026

41184633 (PubMed )
Supplement: 41375_2025_2787_MOESM2_ESM.xlsx › Table_S5

Genomic and clinical characterization of pediatric lymphoepithelioma-like carcinoma.

Que Y et al.

Journal of Translational Medicine, 2024

39633439 (PubMed )
Supplement: 12967_2024_5921_MOESM7_ESM.xlsx › 11newmerge

Whole-exome sequencing in deceased fetuses with ultrasound anomalies: a retrospective analysis.

Huang W et al.

Bmc Medical Genomics, 2023

Genomic Landscape of Malignant Peripheral Nerve Sheath Tumor‒Like Melanoma.

Muniz TP et al.

The Journal of Investigative Dermatology, 2021

Systematic Review of Somatic Mutations in Splenic Marginal Zone Lymphoma.

Jaramillo Oquendo C et al.

Scientific Reports, 2019

31320741 (PubMed )
Supplement: 41598_2019_46906_MOESM1_ESM.xlsx › Table_S3

The developmental biology of genetic Notch disorders.

Mašek J et al.

Development (cambridge, England), 2017

A mutation in NOTCH2 gene in a Chinese patient with Hajdu-Cheney syndrome.

Gu JM et al.

Joint Bone Spine, 2013

Severe osteoporosis and mutation in NOTCH2 gene in a woman with Hajdu-Cheney syndrome.

Stathopoulos IP et al.

Bone, 2013

Whole-genome sequencing identifies recurrent somatic NOTCH2 mutations in splenic marginal zone lymphoma.

Kiel MJ et al.

The Journal of Experimental Medicine, 2012

Serpentine fibula polycystic kidney syndrome is part of the phenotypic spectrum of Hajdu-Cheney syndrome.

Gray MJ et al.

European Journal of Human Genetics : Ejhg, 2012

Mutations in NOTCH2 cause Hajdu-Cheney syndrome, a disorder of severe and progressive bone loss.

Simpson MA et al.

Nature Genetics, 2011

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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."