Varaico: Literature-Extracted Genetic Variants

Gene:IL1RN
Variant:p.I71_I76del0
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IL1RN

NM_173842.3:p.I71_I76del0

Associated Papers

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

The expanding spectrum of rare monogenic autoinflammatory diseases.

Touitou I et al.

Orphanet Journal of Rare Diseases, 2013

A novel mutation of IL1RN in the deficiency of interleukin-1 receptor antagonist syndrome: description of two unrelated cases from Brazil.

Jesus AA et al.

Arthritis and Rheumatism, 2011

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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."