Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy.
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Cullup T, et al. Among authors: mcclelland v.
Nat Genet. 2013 Jan;45(1):83-7. doi: 10.1038/ng.2497. Epub 2012 Dec 9.
Nat Genet. 2013.
PMID: 23222957
Free PMC article.