Varaico: Literature-Extracted Genetic Variants

Gene:NOTCH2
Variant:p.Q2360*
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NOTCH2

NM_024408.4:p.Q2360*

Associated Papers

Prime editing-installed suppressor tRNAs for disease-agnostic genome editing.

Pierce SE et al.

Nature, 2025

41261131 (PubMed )
Supplement: 41586_2025_9732_MOESM17_ESM.xlsx › Sequence_Context_Screen

NOTCH Signaling in Mantle Cell Lymphoma: Biological and Clinical Implications.

Deshotels L et al.

International Journal of Molecular Sciences, 2023

Intravascular Large B-Cell Lymphoma Genomic Profile Is Characterized by Alterations in Genes Regulating NF-κB and Immune Checkpoints.

Gonzalez-Farre B et al.

The American Journal of Surgical Pathology, 2023

36221796 (PubMed )
Supplement: pas-47-202-s007.xlsx › Suppl_Table_4

Progress and Current Status in Hajdu-Cheney Syndrome with Focus on Novel Genetic Research.

Aida N et al.

International Journal of Molecular Sciences, 2022

PEDIA: prioritization of exome data by image analysis.

Hsieh TC et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019

31164752 (PubMed )
Supplement: 41436_2019_566_MOESM2_ESM.xlsx › Sheet1

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

Phenotype variability in Hajdu-Cheney syndrome.

Regev M et al.

European Journal of Medical Genetics, 2019

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

The coding genome of splenic marginal zone lymphoma: activation of NOTCH2 and other pathways regulating marginal zone development.

Rossi D et al.

The Journal of Experimental Medicine, 2012

22891273 (PubMed )
Supplement: supp_jem.20120904_JEM_20120904_TableS7.xlsx › Table_VIIs

Mutations in NOTCH2 in families with Hajdu-Cheney syndrome.

Majewski J et al.

Human Mutation, 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."