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DESCRIBE <http://purl.uniprot.org/SHA-384/4E414CCB9B8D80EC017189B8DF41428633738D3AE971CF67F8D16CCB63EBDC6BB84CF7BBEAA99BC203375BAB6721C2EC>
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http://purl.uniprot.org/SHA-384/4E414CCB9B8D80EC017189B8DF41428633738D3AE971CF67F8D16CCB63EBDC6BB84CF7BBEAA99BC203375BAB6721C2EC
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/4E414CCB9B8D80EC017189B8DF41428633738D3AE971CF67F8D16CCB63EBDC6BB84CF7BBEAA99BC203375BAB6721C2EC
http://www.w3.org/2000/01/rdf-schema#comment
"These patients represent an earlier and more severe form of DOLK-CDG (CDG-1m) with a striking presentation at birth that expands the known phenotypic spectrum."
xsd:string
http://purl.uniprot.org/uniprot/#_095BB1D302DF482222B18424346A0E41FFBB9C5B9D47D7AAA8778531544E2501A29430A25BB05D4510CDEDA1E6730842
http://www.w3.org/1999/02/22-rdf-syntax-ns#subject
http://purl.uniprot.org/SHA-384/4E414CCB9B8D80EC017189B8DF41428633738D3AE971CF67F8D16CCB63EBDC6BB84CF7BBEAA99BC203375BAB6721C2EC
http://purl.uniprot.org/uniprot/A0A0S2Z5Y1
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/4E414CCB9B8D80EC017189B8DF41428633738D3AE971CF67F8D16CCB63EBDC6BB84CF7BBEAA99BC203375BAB6721C2EC
http://purl.uniprot.org/uniprot/#_A0A0S2Z5Y1-mappedCitation-28816422
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/4E414CCB9B8D80EC017189B8DF41428633738D3AE971CF67F8D16CCB63EBDC6BB84CF7BBEAA99BC203375BAB6721C2EC