Varaico: Literature-Extracted Genetic Variants

Gene:ITGB2
Variant:p.A239T
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ITGB2

NM_000211.5:p.A239T

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

[Application value of whole exome sequencing in critically ill neonates with inherited diseases].

Chen YL et al.

Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics, 2020

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

Teimourian S et al.

Journal of Pediatric Hematology/oncology, 2019

Mutation spectra of the ITGB2 gene in Iranian families with leukocyte adhesion deficiency type 1.

Yassaee VR et al.

Human Immunology, 2016

Investigation of ITGB2 gene in 12 new cases of leukocyte adhesion deficiency-type I revealed four novel mutations from Iran.

Taghizade Mortezaee F et al.

Archives of Iranian Medicine, 2015

Prenatal diagnosis of leukocyte adhesion deficiency type-1 (five cases from iran with two new mutations).

Esmaeili B et al.

Iranian Journal of Allergy, Asthma, and Immunology, 2014

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

van de Vijver E et al.

Blood Cells, Molecules & Diseases, 2012

Characterization of 11 new cases of leukocyte adhesion deficiency type 1 with seven novel mutations in the ITGB2 gene.

Parvaneh N et al.

Journal of Clinical Immunology, 2010

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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."