Varaico: Literature-Extracted Genetic Variants

Gene:IRF2BP2
Variant:p.T394P
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IRF2BP2

NM_182972.3:p.T394P

Associated Papers

IRF2BP2 deficiency: An important form of common variable immunodeficiency with inflammation.

Udemgba C et al.

The Journal of Allergy and Clinical Immunology, 2025

What can inherited immunodeficiencies reveal about pyoderma gangrenosum?

Oprea Y et al.

Experimental Dermatology, 2024

Identification of a Novel NLRP12 Frameshift Mutation (Val730Glyfs∗41) by Whole-Exome Sequencing in Patients with Crohn's Disease.

Chen J et al.

Human Mutation, 2024

40225939 (PubMed )
Supplement: 5573272.f1.docx

Whole-exome sequencing in a subject with fluctuating neuropsychiatric symptoms, immunoglobulin G1 deficiency, and subsequent development of Crohn's disease: a case report.

Jyonouchi H et al.

Journal of Medical Case Reports, 2022

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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."