Varaico: Literature-Extracted Genetic Variants

Gene:SH2B3
Variant:p.R80C
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SH2B3

NM_005475.3:p.R80C

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

Post-transplant transient abnormal myelopoiesis evolving from a GATA1 mutant clone in umbilical cord blood.

Kubota Y et al.

Annals of Hematology, 2024

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

38417019 (PubMed )
Supplement: EMS196089-supplement-Supplementary_Figure_Caption.docx

Molecular Profiling of Kenyan Acute Myeloid Leukemia Patients.

Gatua M et al.

Frontiers in Genetics, 2022

35836575 (PubMed )
Supplement: DataSheet1.xlsx › ST2

Whole-exome sequencing reveals acquisition of mutations leading to the onset of donor cell leukemia after hematopoietic transplantation: a model of leukemogenesis.

Suárez-González J et al.

Leukemia, 2018

Tumorigenicity-associated characteristics of human iPS cell lines.

Yasuda S et al.

Plos One, 2018

30286143 (PubMed )
Supplement: pone.0205022.s007.xlsx › Sheet1
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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."