Varaico: Literature-Extracted Genetic Variants

Gene:PSTPIP1
Variant:p.V408I
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PSTPIP1

NM_003978.5:p.V408I

Associated Papers

Pyogenic arthritis, pyoderma gangrenosum, and acne syndrome in a Chinese family: A case report and review of literature.

Lu LY et al.

World Journal of Clinical Cases, 2021

Rare cases of PAMI syndrome in both father and son with the same missense mutation in PSTPIP1 gene and literature review.

Huang X et al.

The Journal of Dermatology, 2021

PAPA and FMF in two siblings: possible amplification of clinical presentation? A case report.

Maggio MC et al.

Italian Journal of Pediatrics, 2019

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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."