Varaico: Literature-Extracted Genetic Variants

Gene:ITGB2
Variant:p.Y130H
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ITGB2

NM_000211.5:p.Y130H

Associated Papers

Whole exome-based variant profiling and functional network characterization in neural tube defects.

Akcali N et al.

Child's Nervous System : Chns : Official Journal of the International Society for Pediatric Neurosurgery, 2025

Lentiviral Gene Therapy for Severe Leukocyte Adhesion Deficiency Type 1.

Booth C et al.

The New England Journal of Medicine, 2025

40305711 (PubMed )
Supplement: nejmoa2407376_appendix.pdf

Defective Treg generation and increased type 3 immune response in leukocyte adhesion deficiency 1.

Erdem S et al.

Clinical Immunology (orlando, Fla.), 2023

Hematologically important mutations: Leukocyte adhesion deficiency (second update).

Roos D et al.

Blood Cells, Molecules & Diseases, 2023

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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."