Varaico: Literature-Extracted Genetic Variants

Gene:ITGB2
Variant:p.G236W
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ITGB2

NM_000211.5:p.G236W

Associated Papers

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

Roos D et al.

Blood Cells, Molecules & Diseases, 2023

Proteome Analysis of Human Neutrophil Granulocytes From Patients With Monogenic Disease Using Data-independent Acquisition.

Grabowski P et al.

Molecular & Cellular Proteomics : Mcp, 2019

30630937 (PubMed )
Supplement: 141289_1_supp_251887_pjqfps.xlsx › Sheet1

Cathepsin C gene: First compound heterozygous patient with Papillon-Lefèvre syndrome and a novel symptomless mutation.

Allende LM et al.

Human Mutation, 2001

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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."