Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP277011.RAY80AdfIP-6lzf6Hu5FSLzSSQBto6vn8LXITYtnEFH6E#assertion> ?p ?o ?g. }
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- assertion description "[Compound heterozygous mutations in the B4GALT7 gene, resulting in aberrant glycosylation of the dermatan sulfate proteoglycan decorin, had been described in a single patient affected with the progeroid form of EDS.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
- assertion evidence source_evidence_literature provenance.
- assertion SIO_000772 16583246 provenance.
- assertion wasDerivedFrom BEFREE provenance.
- assertion wasGeneratedBy ECO_0000203 provenance.