Varaico: Literature-Extracted Genetic Variants

Gene:ITGB2
Variant:p.K274insFs
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ITGB2

NM_000211.5:p.K274insFs

Associated Papers

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

Roos D et al.

Blood Cells, Molecules & Diseases, 2023

Prevalence of Pathogenic and Potentially Pathogenic Inborn Error of Immunity Associated Variants in Children with Severe Sepsis.

Kernan KF et al.

Journal of Clinical Immunology, 2022

34973142 (PubMed )
Supplement: 10875_2021_1183_MOESM4_ESM.xls › phenotype_detail_novel
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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."