Varaico: Literature-Extracted Genetic Variants

Gene:IL1RN
Variant:p.N52fs
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IL1RN

NM_173842.3:p.N52fs

Associated Papers

Analysis of Anakinra Therapy for the Deficiency of Interleukin-1 Receptor Antagonist through Clinical Evidence.

Pillai K et al.

Journal of Clinical Medicine, 2024

A case report of a novel compound heterozygous mutation in a Brazilian patient with deficiency of Interleukin-1 receptor antagonist (DIRA).

Mendonça LO et al.

Pediatric Rheumatology Online Journal, 2020

Homozygous IL1RN Mutation in Siblings with Deficiency of Interleukin-1 Receptor Antagonist (DIRA).

Ziaee V et al.

Journal of Clinical Immunology, 2020

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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."