Varaico: Literature-Extracted Genetic Variants

Gene:SH2B3
Variant:p.E523fs
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SH2B3

NM_005475.3:p.E523fs

Associated Papers

LNK/SH2B3 as a novel driver in juvenile myelomonocytic leukemia.

Wintering A et al.

Haematologica, 2024

Genomes for Kids: The Scope of Pathogenic Mutations in Pediatric Cancer Revealed by Comprehensive DNA and RNA Sequencing.

Newman S et al.

Cancer Discovery, 2021

34301788 (PubMed )
Supplement: cd-20-1631_supplementary_tables_suppst1.xlsx › S2.Somatic_Findings_Summary

SH2B3 inactivation through CN-LOH 12q is uniquely associated with B-cell precursor ALL with iAMP21 or other chromosome 21 gain.

Sinclair PB et al.

Leukemia, 2019

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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."