Varaico: Literature-Extracted Genetic Variants

Gene:PSTPIP1
Variant:p.T274M
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PSTPIP1

NM_003978.5:p.T274M

Associated Papers

PSTPIP1-LYP phosphatase interaction: structural basis and implications for autoinflammatory disorders.

Manso JA et al.

Cellular and Molecular Life Sciences : Cmls, 2022

Immunological repertoire linked to PSTPIP1-associated myeloid-related inflammatory (PAMI) syndrome.

Mendonça LO et al.

Pediatric Rheumatology Online Journal, 2021

Molecular mechanisms of phenotypic variability in monogenic autoinflammatory diseases.

Aksentijevich I et al.

Nature Reviews. Rheumatology, 2021

Proline-serine-threonine phosphatase interacting protein 1 (PSTPIP1) controls immune synapse stability in human T cells.

Janssen WJM et al.

The Journal of Allergy and Clinical Immunology, 2018

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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."