Varaico: Literature-Extracted Genetic Variants

Gene:SH2B3
Variant:p.N570fs
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SH2B3

NM_005475.3:p.N570fs

Associated Papers

Biallelic SH2B3 germline variants are associated with a neonatal myeloproliferative disease and multisystemic involvement.

Leardini D et al.

European Journal of Human Genetics : Ejhg, 2025

Germline bi-allelic SH2B3/LNK alteration predisposes to a neonatal juvenile myelomonocytic leukemia-like disorder.

Arfeuille C et al.

Haematologica, 2024

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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."