Varaico: Literature-Extracted Genetic Variants

Gene:RFXANK
Variant:p.W188*
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RFXANK

NM_003721.4:p.W188*

Associated Papers

Whole-exome sequencing to identify undiagnosed primary immunodeficiency disorders in children with community-acquired sepsis, admitted in the pediatric intensive care unit.

Rayzan E et al.

Pediatric Allergy and Immunology : Official Publication of the European Society of Pediatric Allergy and Immunology, 2023

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

A novel mutation in RFXANK gene and low B cell count in a patient with MHC class II deficiency: a case report.

Abolnezhadian F et al.

Immunologic Research, 2020

MHC Class II Deficiency with Normal CD4+ T Cell Counts: A Case Report.

Abolnezhadian F et al.

Iranian Journal of Allergy, Asthma, and Immunology, 2018

Major histocompatibility complex class II deficiency in Kuwait: clinical manifestations, immunological findings and molecular profile.

Al-Herz W et al.

Journal of Clinical Immunology, 2013

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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."