Varaico: Literature-Extracted Genetic Variants

Gene:ITGB2
Variant:p.S138P
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ITGB2

NM_000211.5:p.S138P

Associated Papers

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

Roos D et al.

Blood Cells, Molecules & Diseases, 2023

Successful reconstitution of leukocyte adhesion defect after umbilical cord blood stem cell transplant.

Chakraborty S et al.

Central-european Journal of Immunology, 2020

Leukocyte Adhesion Deficiency Type 1 (LAD1) with Expressed but Nonfunctional CD11/CD18.

Cabanillas D et al.

Journal of Clinical Immunology, 2016

Characterization of single amino acid substitutions in the β2 integrin subunit of patients with leukocyte adhesion deficiency (LAD)-1.

Guan S 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

Neutrophil function and molecular analysis in severe leukocyte adhesion deficiency type I without separation delay of the umbilical cord.

Tsai YC et al.

Pediatric Allergy and Immunology : Official Publication of the European Society of Pediatric Allergy and Immunology, 2008

A novel leukocyte adhesion deficiency caused by expressed but nonfunctional beta2 integrins Mac-1 and LFA-1.

Hogg N et al.

The Journal of Clinical Investigation, 1999

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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."