Varaico: Literature-Extracted Genetic Variants

Gene:RFX5
Variant:p.A206P
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RFX5

NM_001025603.2:p.A206P

Associated Papers

A patient with RFX5 variant causing an expression defect in both HLA ABC and HLA DR.

Goktas S et al.

Immunologic Research, 2025

MHC Class II Deficiency: Clinical, Immunological, and Genetic Insights in a Large Multicenter Cohort.

Gulec Koksal Z et al.

The Journal of Allergy and Clinical Immunology. in Practice, 2024

Rapid Low-Cost Microarray-Based Genotyping for Genetic Screening in Primary Immunodeficiency.

Suratannon N et al.

Frontiers in Immunology, 2020

32373116 (PubMed )
Supplement: Table_1.xlsx › Table_E1_Previously_diagnosed
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