Varaico: Literature-Extracted Genetic Variants

Gene:RFXANK
Variant:p.G200delFs
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RFXANK

NM_003721.4:p.G200delFs

Associated Papers

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

Li X et al.

Immunologic Research, 2024

Genetic Testing in Egyptian Patients with Inborn Errors of Immunity: a Single-Center Experience.

El Hawary RE et al.

Journal of Clinical Immunology, 2022

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

MHC-II Deficiency Among Egyptians: Novel Mutations and Unique Phenotypes.

El Hawary RE et al.

The Journal of Allergy and Clinical Immunology. in Practice, 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."