Varaico: Literature-Extracted Genetic Variants

Gene:PSTPIP1
Variant:p.N236K
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PSTPIP1

NM_003978.5:p.N236K

Associated Papers

Progressive increase of serum zinc level in a Pediatric patient with PSTPIP1- p.N236K mutation.

Takahashi C et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2026

PSTPIP1-Associated Myeloid-Related Proteinemia Inflammatory (PAMI) Syndrome: A Systematic Review.

Mejbri M et al.

Genes, 2023

Molecular mechanisms of phenotypic variability in monogenic autoinflammatory diseases.

Aksentijevich I et al.

Nature Reviews. Rheumatology, 2021

Single-Center Overview of Pediatric Monogenic Autoinflammatory Diseases in the Past Decade: A Summary and Beyond.

Wang W et al.

Frontiers in Immunology, 2020

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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."