Varaico: Literature-Extracted Genetic Variants

Gene:RFXANK
Variant:p.S159R
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RFXANK

NM_003721.4:p.S159R

Associated Papers

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

Persisting enteropathy and disturbed adaptive mucosal immunity due to MHC class II deficiency.

Posovszky C et al.

Clinical Immunology (orlando, Fla.), 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."