Varaico: Literature-Extracted Genetic Variants

Gene:PSTPIP2
Variant:p.L98S
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PSTPIP2

NM_024430.4:p.L98S

Associated Papers

Genetic background affects neutrophil activity and determines the severity of autoinflammatory osteomyelitis in mice.

Pavliuchenko N et al.

Journal of Leukocyte Biology, 2024

The receptor-type protein tyrosine phosphatase CD45 promotes onset and severity of IL-1β-mediated autoinflammatory osteomyelitis.

Kralova J et al.

The Journal of Biological Chemistry, 2021

PSTPIP2, a Protein Associated with Autoinflammatory Disease, Interacts with Inhibitory Enzymes SHIP1 and Csk.

Drobek A et al.

Journal of Immunology (baltimore, Md. : 1950), 2015

A missense mutation in pstpip2 is associated with the murine autoinflammatory disorder chronic multifocal osteomyelitis.

Ferguson PJ et al.

Bone, 2006

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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."