Varaico: Literature-Extracted Genetic Variants

Gene:ERBIN
Variant:p.D530Y
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ERBIN

NM_001253697.2:p.D530Y

Associated Papers

Hyper IgE Syndromes: Understanding, Management, and Future Perspectives: A Narrative Review.

Salehi M et al.

Health Science Reports, 2025

Targeted IL-4Rα blockade ameliorates refractory allergic eosinophilic inflammation in a patient with dysregulated TGF-β signaling due to ERBIN deficiency.

Droghini HR et al.

The Journal of Allergy and Clinical Immunology. in Practice, 2022

The leucine-rich repeat signaling scaffolds Shoc2 and Erbin: cellular mechanism and role in disease.

Jang H et al.

The Febs Journal, 2021

ERBIN deficiency links STAT3 and TGF-β pathway defects with atopy in humans.

Lyons JJ et al.

The Journal of Experimental Medicine, 2017

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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."