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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ITGB2

Variant:p.Y131F

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ITGB2

NM_000211.5:p.Y131F

hg38:chr21:44903472 T>A

Associated Papers

Reversion mutations in patients with leukocyte adhesion deficiency type-1 (LAD-1).

Uzel G et al.

Blood, 2008

17875809 (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."