Varaico: Literature-Extracted Genetic Variants

Gene:IFNGR1
Variant:p.I249delFs
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IFNGR1

NM_000416.3:p.I249delFs

Associated Papers

Systemic aspergillosis in a patient with interferon gamma receptor 1 deficiency; a case report.

Esmaeilzadeh H et al.

Bmc Pediatrics, 2023

Complete IFN-γR1 Deficiency in a Boy Due to UPD(6)mat with IFNGR1 Novel Splicing Variant.

Zhang P et al.

Journal of Clinical Immunology, 2021

A Novel Recessive Mutation of Interferon-γ Receptor 1 in a Patient with Mycobacterium tuberculosis in Bone Marrow Aspirate.

Shabani M et al.

Journal of Clinical Immunology, 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."