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{ <http://purl.org/np/RA12lVwEtmddK9OwDkZQZlgJaOD2-0NXtAtO_jDaG-3VQ#quote> ?p ?o ?g. }
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10.1038%2Fgim.2014.22
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"
NGLY1 deficiency is a novel autosomal recessive disorder of the endoplasmic reticulum–associated degradation pathway
"
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