Varaico: Literature-Extracted Genetic Variants

Gene:ITGB2
Variant:p.C286F
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ITGB2

NM_000211.5:p.C286F

Associated Papers

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

Roos D et al.

Blood Cells, Molecules & Diseases, 2023

Leukocyte Adhesion Deficiency Type 1 Due to Novel ITGB2 Mutation.

Harvey S et al.

Irish Medical Journal, 2020

β2 Integrin Gene (ITGB2) mutation spectra in Pakistani families with leukocyte adhesion deficiency type 1 (LAD1).

Nawaz Tipu H et al.

Immunobiology, 2020

Novel Mutations in the β2 Integrin Gene (ITGB2) in a Moderate Leukocyte Adhesion Defect type 1 Patient.

Hu J et al.

Archives of Iranian Medicine, 2018

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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."