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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ERBIN

Variant:p.S704insFs

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ERBIN

NM_001253697.2:p.S704insFs

hg38:chr5:66053429 G>GC

Associated Papers

Pulmonary features and stage of disease in adult patients with hyper-IgE syndrome: a single-centre clinical study and literature review.

Xie T et al.

Orphanet Journal of Rare Diseases, 2025

40462219 (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."