Varaico: Literature-Extracted Genetic Variants

Gene:NOTCH2
Variant:p.Q2389*
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NOTCH2

NM_024408.4:p.Q2389*

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

Follicular lymphoma and diffuse large B-cell lymphoma with BCL2 and IRF4 rearrangements in adult patients.

Yuan J et al.

Human Pathology, 2023

Hajdu-Cheney syndrome with atypical cardiovascular abnormalities.

Ekure EN et al.

American Journal of Medical Genetics. Part A, 2023

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

Aida N et al.

International Journal of Molecular Sciences, 2022

Proposal and validation of a method to classify genetic subtypes of diffuse large B cell lymphoma.

Pedrosa L et al.

Scientific Reports, 2021

33479306 (PubMed )
Supplement: 41598_2020_80376_MOESM1_ESM.xlsx › Table_S2._Mutational_data

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

Analysis of Genomic Alteration in Primary Central Nervous System Lymphoma and the Expression of Some Related Genes.

Zhou Y et al.

Neoplasia (new York, N.y.), 2018

30227305 (PubMed )
Supplement: mmc1.xlsx › Supplementary_6

The developmental biology of genetic Notch disorders.

Mašek J et al.

Development (cambridge, England), 2017

Clinical consequences in truncating mutations in exon 34 of NOTCH2: report of six patients with Hajdu-Cheney syndrome and a patient with serpentine fibula polycystic kidney syndrome.

Narumi Y et al.

American Journal of Medical Genetics. Part A, 2013

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

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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."