Varaico: Literature-Extracted Genetic Variants

Gene:ITGB2
Variant:p.D128N
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ITGB2

NM_000211.5:p.D128N

Associated Papers

Accurate affinity models for SH2 domains from peptide binding assays and free-energy regression.

Gagoski D et al.

Protein Science : a Publication of the Protein Society, 2025

41088778 (PubMed )
Supplement: PRO-34-e70317-s008.xlsx › _S6_-_PTMVar_-_Fyn

Accurate sequence-to-affinity models for SH2 domains from multi-round peptide binding assays coupled with free-energy regression.

Gagoski D et al.

Biorxiv : the Preprint Server for Biology, 2025

39764007 (PubMed )
Supplement: media-1.xlsx › _S6_-_PTMVar_-_Fyn

Defective Treg generation and increased type 3 immune response in leukocyte adhesion deficiency 1.

Erdem S et al.

Clinical Immunology (orlando, Fla.), 2023

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 laboratory findings in patients with leukocyte adhesion deficiency type I: A multicenter study in Turkey.

Yaz I et al.

Clinical and Experimental Immunology, 2021

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

Teimourian S et al.

Journal of Pediatric Hematology/oncology, 2019

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

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

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

Leukocyte adhesion deficiency-I: A comprehensive review of all published cases.

Almarza Novoa E et al.

The Journal of Allergy and Clinical Immunology. in Practice, 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."