Varaico: Literature-Extracted Genetic Variants

Gene:RFXANK
Variant:p.P54delFs
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RFXANK

NM_003721.4:p.P54delFs

Associated Papers

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

Li X et al.

Immunologic Research, 2024

Early onset polyarthritis: an unusual presentation of MHC class II deficiency.

Sil A et al.

Rheumatology (oxford, England), 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

Genetic mutations and immunological features of severe combined immunodeficiency patients in Iran.

Shahbazi Z et al.

Immunology Letters, 2019

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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."