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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ITGB2

Variant:p.D134Y

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ITGB2

NM_000211.5:p.D134Y

hg38:chr21:44903464 C>A

Associated Papers

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

Roos D et al.

Blood Cells, Molecules & Diseases, 2023

36696755 (PubMed )

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

Cabanillas D et al.

Journal of Clinical Immunology, 2016

27492259 (PubMed )

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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."