Varaico: Literature-Extracted Genetic Variants

Gene:SH2B3
Variant:p.Q54P
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SH2B3

NM_005475.3:p.Q54P

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

Genetic investigations on singleton school aged children reveal novel variants and new candidate genes for hearing loss.

Khan H et al.

Scientific Reports, 2024

39271758 (PubMed )
Supplement: 41598_2024_71407_MOESM1_ESM.xlsx › HLMS33_het

[Genetic Variation of SH2B3 in Patients with Myeloid Neoplasms].

Ma Q et al.

Zhongguo Shi Yan Xue Ye Xue Za Zhi, 2024

A clinical transcriptome approach to patient stratification and therapy selection in acute myeloid leukemia.

Docking TR et al.

Nature Communications, 2021

33931648 (PubMed )
Supplement: 41467_2021_22625_MOESM4_ESM.xlsx › Supplementary_Data_12

[Familial platelet disorder with predisposition to myeloid leukemia (FPD/AML): a case report and literature review].

Zhang RR et al.

Zhonghua Xue Ye Xue Za Zhi = Zhonghua Xueyexue Zazhi, 2021

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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."