Varaico: Literature-Extracted Genetic Variants

Gene:ITGB2
Variant:p.I626Splc
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ITGB2

NM_000211.5:p.I626Splc

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

Severe childhood speech disorder: Gene discovery highlights transcriptional dysregulation.

Hildebrand MS et al.

Neurology, 2020

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

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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."