Varaico: Literature-Extracted Genetic Variants

Gene:CIITA
Variant:p.C812*
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CIITA

NM_000246.4:p.C812*

Associated Papers

Case Report: A novel CIITA mutation causing MHC class II deficiency: first reported case in Morocco.

Kattra AB et al.

Frontiers in Immunology, 2025

Novel variants in CIITA caused type II bare lymphocyte syndrome: A case report.

Zhang Y et al.

Asian Pacific Journal of Allergy and Immunology, 2024

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

Clinical, Immunological, and Molecular Findings in 57 Patients With Severe Combined Immunodeficiency (SCID) From India.

Aluri J et al.

Frontiers in Immunology, 2019

Clinical, Immunological, and Molecular Findings in Five Patients with Major Histocompatibility Complex Class II Deficiency from India.

Aluri J et al.

Frontiers in Immunology, 2018

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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."