Varaico: Literature-Extracted Genetic Variants

Gene:PSTPIP1
Variant:p.A382T
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PSTPIP1

NM_003978.5:p.A382T

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

Rare missense variants in the SH3 domain of PSTPIP1 are associated with hidradenitis suppurativa.

Morales-Heil DJ et al.

Hgg Advances, 2023

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