Varaico: Literature-Extracted Genetic Variants

Gene:ITGB2
Variant:p.G169R
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ITGB2

NM_000211.5:p.G169R

Associated Papers

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

Roos D et al.

Blood Cells, Molecules & Diseases, 2023

Genetic Testing in Egyptian Patients with Inborn Errors of Immunity: a Single-Center Experience.

El Hawary RE et al.

Journal of Clinical Immunology, 2022

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

Two Novel Frame Shift, Recurrent and De Novo Mutations in the ITGB2 (CD18) Gene Causing Leukocyte Adhesion Deficiency in a Highly Inbred North African Population.

Fathallah DM et al.

Journal of Biomedicine & Biotechnology, 2001

An initiation codon mutation in CD18 in association with the moderate phenotype of leukocyte adhesion deficiency.

Sligh JE et al.

The Journal of Biological Chemistry, 1992

Genetic and immunological assessment of a bone marrow transplantation in a patient with a primary immune defect: leukocyte adhesion deficiency.

Jamal T et al.

Archives De L'institut Pasteur De Tunis, 0

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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."