Varaico: Literature-Extracted Genetic Variants

Gene:ITGAL
Variant:p.V8V
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ITGAL

NM_002209.3:p.V8V

Associated Papers

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

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

The ITGB2 immunomodulatory gene (CD18), enterocolitis, and Hirschsprung's disease.

Moore SW et al.

Journal of Pediatric Surgery, 2008

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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."