Varaico: Literature-Extracted Genetic Variants

Gene:NOTCH2
Variant:p.Q2263*
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NOTCH2

NM_024408.4:p.Q2263*

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

Circulating tumor DNA mutation profile is associated with the prognosis and treatment response of Chinese patients with newly diagnosed diffuse large B-cell lymphoma.

Guan T et al.

Frontiers in Oncology, 2022

36465410 (PubMed )
Supplement: DataSheet_1.xlsx › Supplementary_table_3

Hajdu Cheney Syndrome due to NOTCH2 defect - First case report from Pakistan and review of literature.

Ahmed S et al.

Annals of Medicine and Surgery (2012), 2021

Predictive Biomarkers for Immune Checkpoint Inhibitors in Metastatic Breast Cancer.

Sivapiragasam A et al.

Cancer Medicine, 2021

33314633 (PubMed )
Supplement: CAM4-10-53-s004.xlsx › Sheet1

Dental implications in Hajdu-Cheney syndrome: A novel case report and review of the literature.

Lee JW et al.

Oral Diseases, 2018

Bone Structural Characteristics and Response to Bisphosphonate Treatment in Children With Hajdu-Cheney Syndrome.

Sakka S et al.

The Journal of Clinical Endocrinology and Metabolism, 2017

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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."