Varaico: Literature-Extracted Genetic Variants

Gene:IRF2BP2
Variant:p.P73fs
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IRF2BP2

NM_182972.3:p.P73fs

Associated Papers

An IRF2BP2 Variant in a Pediatric Patient with Common Variable Immunodeficiency.

Tekcan D et al.

Pediatric Allergy, Immunology, and Pulmonology, 2025

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_Fig___Tables.pdf

Novel frameshift variants expand the map of the genetic defects in IRF2BP2.

García-Aznar JM et al.

Frontiers in Immunology, 2023

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