Varaico: Literature-Extracted Genetic Variants

Gene:PSTPIP1
Variant:p.T255M
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PSTPIP1

NM_003978.5:p.T255M

Associated Papers

Comprehensive Catalog of Variants Potentially Associated with Hidradenitis Suppurativa, Including Newly Identified Variants from a Cohort of 100 Patients.

Muret K et al.

International Journal of Molecular Sciences, 2024

39408704 (PubMed )
Supplement: ijms-25-10374-s001.zip › ijms-3168929_Supplementary_Table_S1.xlsx › Data

Human Inborn Errors of Immunity in Pyoderma Gangrenosum: A Systematic Review.

Oprea Y et al.

American Journal of Clinical Dermatology, 2024

Management of patients with hidradenitis suppurativa having underlying genetic variation: a systematic review and a call for precision medicine.

Mintoff D et al.

Clinical and Experimental Dermatology, 2023

Severe ulcerative proctitis, pyoderma gangrenosum, hidradenitis suppurativa and fever in a patient with a rare variant of the PSTPIP1 gene.

Hieta N et al.

Clinical and Experimental Dermatology, 2021

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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."