Varaico: Literature-Extracted Genetic Variants

Gene:ITGB2
Variant:p.F299_D300Splc
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ITGB2

NM_000211.5:p.F299_D300Splc

Associated Papers

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

Roos D et al.

Blood Cells, Molecules & Diseases, 2023

Utility of targeted next generation sequencing for inborn errors of immunity at a tertiary care centre in North India.

Rawat A et al.

Scientific Reports, 2022

Leukocyte Adhesion Deficiency Type 1 Due to Novel ITGB2 Mutation.

Harvey S et al.

Irish Medical Journal, 2020

β2 Integrin Gene (ITGB2) mutation spectra in Pakistani families with leukocyte adhesion deficiency type 1 (LAD1).

Nawaz Tipu H et al.

Immunobiology, 2020

Report of a Chinese Cohort with Leukocyte Adhesion Deficiency-I and Four Novel Mutations.

Sun B et al.

Journal of Clinical Immunology, 2019

Novel Mutations in the β2 Integrin Gene (ITGB2) in a Moderate Leukocyte Adhesion Defect type 1 Patient.

Hu J et al.

Archives of Iranian Medicine, 2018

Leukocyte Adhesion Deficiency-I: Clinical and Molecular Characterization in an Indian Population.

Deshpande P et al.

Indian Journal of Pediatrics, 2016

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

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

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."