Varaico: Literature-Extracted Genetic Variants

Gene:ITGB2
Variant:p.A270V
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ITGB2

NM_000211.5:p.A270V

Associated Papers

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

Roos D et al.

Blood Cells, Molecules & Diseases, 2023

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

Long term outcome of eight patients with type 1 Leukocyte Adhesion Deficiency (LAD-1): Not only infections, but high risk of autoimmune complications.

De Rose DU et al.

Clinical Immunology (orlando, Fla.), 2018

Molecular characterization of leukocyte adhesion deficiency-I in Indian patients: identification of 9 novel mutations.

Madkaikar M et al.

Blood Cells, Molecules & Diseases, 2015

Hematologically important mutations: leukocyte adhesion deficiency (first update).

van de Vijver E et al.

Blood Cells, Molecules & Diseases, 2012

Characterization of four CD18 mutants in leucocyte adhesion deficient (LAD) patients with differential capacities to support expression and function of the CD11/CD18 integrins LFA-1, Mac-1 and p150,95.

Shaw JM et al.

Clinical and Experimental Immunology, 2001

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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."