Varaico: Literature-Extracted Genetic Variants

Gene:RFXANK
Variant:p.W146_G147Splc
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RFXANK

NM_003721.4:p.W146_G147Splc

Associated Papers

Major Histocompatibility Complex Class II Deficiency Beyond Infancy.

Kattra AB et al.

Case Reports in Immunology, 2025

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

Li X et al.

Immunologic Research, 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

Ciliary and immune dysfunctions and their genetic background in patients with non-cystic fibrosis bronchiectasis in Central Iran.

Hassanzadeh S et al.

Irish Journal of Medical Science, 2023

Gene mutations responsible for primary immunodeficiency disorders: A report from the first primary immunodeficiency biobank in Iran.

Sheikhbahaei S et al.

Allergy, Asthma, and Clinical Immunology : Official Journal of the Canadian Society of Allergy and Clinical Immunology, 2016

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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."