Varaico: Literature-Extracted Genetic Variants

Gene:ITGB2
Variant:p.R253H
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ITGB2

NM_000211.5:p.R253H

Associated Papers

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

Roos D et al.

Blood Cells, Molecules & Diseases, 2023

Three novel homozygous ITGB2 mutations among two patients with leukocyte adhesion defect type-1: Two case reports.

Suksawat Y et al.

World Journal of Clinical Pediatrics, 2022

Clinical and Genetic Spectrum of a Large Cohort of Patients With Leukocyte Adhesion Deficiency Type 1 and 3: A Multicentric Study From India.

Kambli PM et al.

Frontiers in Immunology, 2020

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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."