Varaico: Literature-Extracted Genetic Variants

Gene:RFXANK
Variant:p.E102*
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RFXANK

NM_003721.4:p.E102*

Associated Papers

New mutations and new phenotypes: a case of Major Histocompatibility Complex Class II Deficiency.

Li X et al.

Immunologic Research, 2024

Clinical, Immunological, and Genetic Findings in Iranian Patients with MHC-II Deficiency: Confirmation of c.162delG RFXANK Founder Mutation in the Iranian Population.

Mousavi Khorshidi MS et al.

Journal of Clinical Immunology, 2023

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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