Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP525899.RAeKMMdAMbZxJvdnYz2JTKTokZ6uXfINVk7bWZB-K0RIM130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP525899.RAeKMMdAMbZxJvdnYz2JTKTokZ6uXfINVk7bWZB-K0RIM130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP525899.RAeKMMdAMbZxJvdnYz2JTKTokZ6uXfINVk7bWZB-K0RIM130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP525899.RAeKMMdAMbZxJvdnYz2JTKTokZ6uXfINVk7bWZB-K0RIM130_provenance.
- NP525899.RAeKMMdAMbZxJvdnYz2JTKTokZ6uXfINVk7bWZB-K0RIM130_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." NP525899.RAeKMMdAMbZxJvdnYz2JTKTokZ6uXfINVk7bWZB-K0RIM130_provenance.
- NP525899.RAeKMMdAMbZxJvdnYz2JTKTokZ6uXfINVk7bWZB-K0RIM130_assertion evidence source_evidence_literature NP525899.RAeKMMdAMbZxJvdnYz2JTKTokZ6uXfINVk7bWZB-K0RIM130_provenance.
- NP525899.RAeKMMdAMbZxJvdnYz2JTKTokZ6uXfINVk7bWZB-K0RIM130_assertion SIO_000772 16583246 NP525899.RAeKMMdAMbZxJvdnYz2JTKTokZ6uXfINVk7bWZB-K0RIM130_provenance.
- NP525899.RAeKMMdAMbZxJvdnYz2JTKTokZ6uXfINVk7bWZB-K0RIM130_assertion wasDerivedFrom befree-20140225 NP525899.RAeKMMdAMbZxJvdnYz2JTKTokZ6uXfINVk7bWZB-K0RIM130_provenance.
- NP525899.RAeKMMdAMbZxJvdnYz2JTKTokZ6uXfINVk7bWZB-K0RIM130_assertion wasGeneratedBy ECO_0000203 NP525899.RAeKMMdAMbZxJvdnYz2JTKTokZ6uXfINVk7bWZB-K0RIM130_provenance.
- befree-20140225 importedOn "2014-02-25" NP525899.RAeKMMdAMbZxJvdnYz2JTKTokZ6uXfINVk7bWZB-K0RIM130_provenance.