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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:IL1RN

Variant:p.H52_G53delFs

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IL1RN

NM_173843.3:p.H52_G53delFs

hg38:chr2:113131096 ATG>A

Associated Papers

Deficiency of Interleukin-1 Receptor Antagonist (DIRA): Report of the First Indian Patient and a Novel Deletion Affecting IL1RN.

Mendonca LO et al.

Journal of Clinical Immunology, 2017

28503715 (PubMed )

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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."