Varaico: Literature-Extracted Genetic Variants

Gene:ITGB2
Variant:p.D231A
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ITGB2

NM_000211.5:p.D231A

Associated Papers

A novel point mutation in CD18 causing leukocyte adhesion deficiency in a Chinese patient.

Li L et al.

Chinese Medical Journal, 2010

Leukocyte adhesion deficiency type 1: an important consideration in the clinical differential diagnosis of prepubertal periodontitis. A case report and review of the literature.

Cox DP et al.

Oral Surgery, Oral Medicine, Oral Pathology, Oral Radiology, and Endodontics, 2008

A novel point mutation in CD18 causing the expression of dysfunctional CD11/CD18 leucocyte integrins in a patient with leucocyte adhesion deficiency (LAD).

Mathew EC et al.

Clinical and Experimental Immunology, 2000

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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."