A homozygous loss-of-function mutation leading to CYBC1 deficiency causes chronic granulomatous disease.
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Arnadottir GA, et al. Among authors: haraldsson a.
Nat Commun. 2018 Oct 25;9(1):4447. doi: 10.1038/s41467-018-06964-x.
Nat Commun. 2018.
PMID: 30361506
Free PMC article.