Varaico: Literature-Extracted Genetic Variants

Gene:PLEK
Variant:p.I118delins
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PLEK

NM_002664.3:p.I118delins

Associated Papers

Chronic granulomatous disease caused by mutations other than the common GT deletion in NCF1, the gene encoding the p47phox component of the phagocyte NADPH oxidase.

Roos D et al.

Human Mutation, 2006

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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."