Varaico: Literature-Extracted Genetic Variants

Gene:SH2B3
Variant:p.R566Q
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SH2B3

NM_005475.3:p.R566Q

Associated Papers

Diagnostic relevance of SH2B3 mutations in suspected myeloid malignancies and acute leukemia: insights from a large-scale NGS-based screening study.

Ben Dhia L et al.

Blood Cancer Journal, 2025

41136376 (PubMed )
Supplement: 41408_2025_1392_MOESM2_ESM.pdf

Rare SH2B3 coding variants in lupus patients impair B cell tolerance and predispose to autoimmunity.

Zhang Y et al.

The Journal of Experimental Medicine, 2024

Cancer carrier screening in the general population using whole-genome sequencing.

Chang YS et al.

Cancer Medicine, 2023

35861108 (PubMed )
Supplement: CAM4-12-1972-s007.xlsx › Table_S6

Histological and genetic characterization and follow-up of 130 patients with chronic triple-negative thrombocytosis.

Lemoine S et al.

Haematologica, 2022

35833299 (PubMed )
Supplement: 2022_280917_LEMOINE_SUPPL.pdf

Mutational Landscape of Patients Referred for Elevated Hemoglobin Level.

Bhai P et al.

Current Oncology (toronto, Ont.), 2022

36290845 (PubMed )
Supplement: curroncol-29-00568-s001.zip › Supplementary_File_I.xlsx › All_patients_Erythrocytosis

Immune dysregulation associated with co-occurring germline CBL and SH2B3 variants.

Baccelli F et al.

Human Genomics, 2022

A Series of RET Fusion Spitz Neoplasms With Plaque-Like Silhouette and Dyscohesive Nesting of Epithelioid Melanocytes.

Kim D et al.

The American Journal of Dermatopathology, 2021

Analysis on GENIE reveals novel recurrent variants that affect molecular diagnosis of sizable number of cancer patients.

Koyama T et al.

Bmc Cancer, 2019

30709382 (PubMed )
Supplement: 12885_2019_5313_MOESM2_ESM.xlsx › supplementary_2_filtered
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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."