Varaico: Literature-Extracted Genetic Variants

Gene:RFXANK
Variant:p.S91Splc
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RFXANK

NM_003721.4:p.S91Splc

Associated Papers

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

Li X et al.

Immunologic Research, 2024

A Novel RFXANK Mutation in a Chinese Child With MHC II Deficiency: Case Report and Literature Review.

Cai YQ et al.

Open Forum Infectious Diseases, 2020

Splicing defect in RFXANK results in a moderate combined immunodeficiency and long-duration clinical course.

Prod'homme T et al.

Immunogenetics, 2003

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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."