Varaico: Literature-Extracted Genetic Variants

Gene:ITGB2
Variant:p.I626Splc
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ITGB2

NM_000211.5:p.I626Splc

Associated Papers

A novel ITGB2 variant in a patient with severe recurrent pyoderma gangrenosum-like lesions and underlying leukocyte adhesion deficiency type I: case report and literature review.

Norouzi-Barough L et al.

Archives of Dermatological Research, 2025

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

Roos D et al.

Blood Cells, Molecules & Diseases, 2023

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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."