Varaico: Literature-Extracted Genetic Variants

Gene:ITGB2
Variant:p.C590R
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ITGB2

NM_000211.5:p.C590R

Associated Papers

Clinical and immunological characteristics of 69 leukocyte adhesion deficiency-I patients.

Fazlollahi MR et al.

Pediatric Allergy and Immunology : Official Publication of the European Society of Pediatric Allergy and Immunology, 2023

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

Report of a Chinese Cohort with Leukocyte Adhesion Deficiency-I and Four Novel Mutations.

Sun B et al.

Journal of Clinical Immunology, 2019

Genetic Analysis of 13 Iranian Families With Leukocyte Adhesion Deficiency Type 1.

Teimourian S et al.

Journal of Pediatric Hematology/oncology, 2019

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

van de Vijver E et al.

Blood Cells, Molecules & Diseases, 2012

Amyloidosis in a child with leucocyte adhesion deficiency type-1: an unusual association.

Rawat A et al.

Indian Journal of Pediatrics, 2011

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."