Varaico: Literature-Extracted Genetic Variants

Gene:ITGB2
Variant:p.R257W
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ITGB2

NM_000211.5:p.R257W

Associated Papers

Eight induced pluripotent stem cell lines (iPSCs) derived from two patients with Leukocyte adhesion deficiency Type I (LAD I) with mutations in the ITGB2 gene.

Fekadu-Siebald J et al.

Stem Cell Research, 2024

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

Roos D et al.

Blood Cells, Molecules & Diseases, 2023

Targeted Gene Sanger Sequencing Should Remain the First-Tier Genetic Test for Children Suspected to Have the Five Common X-Linked Inborn Errors of Immunity.

Chan KW et al.

Frontiers in Immunology, 2022

35874699 (PubMed )
Supplement: Table_2.xlsx › Suppl_table_2

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

Sun B et al.

Journal of Clinical Immunology, 2019

Leucocyte adhesion deficiency-A multicentre national experience.

Wolach B et al.

European Journal of Clinical Investigation, 2019

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

van de Vijver E et al.

Blood Cells, Molecules & Diseases, 2012

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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."