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

TREC and KREC profiling as a representative of thymus and bone marrow output in patients with various inborn errors of immunity.

Dasouki M et al.

Clinical and Experimental Immunology, 2020

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."