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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:LAD1

Variant:p.D80V

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LAD1

NM_005558.4:p.D80V

hg38:chr1:201387122 T>A

Associated Papers

Mutation spectra of the ITGB2 gene in Iranian families with leukocyte adhesion deficiency type 1.

Yassaee VR et al.

Human Immunology, 2016

26639818 (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."