Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP543129.RAzx2RXhDluhQcfSlDd7w4dx6J1MJ4DsG1MzbeDgrphCw130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP543129.RAzx2RXhDluhQcfSlDd7w4dx6J1MJ4DsG1MzbeDgrphCw130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP543129.RAzx2RXhDluhQcfSlDd7w4dx6J1MJ4DsG1MzbeDgrphCw130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP543129.RAzx2RXhDluhQcfSlDd7w4dx6J1MJ4DsG1MzbeDgrphCw130_provenance.
- NP543129.RAzx2RXhDluhQcfSlDd7w4dx6J1MJ4DsG1MzbeDgrphCw130_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." NP543129.RAzx2RXhDluhQcfSlDd7w4dx6J1MJ4DsG1MzbeDgrphCw130_provenance.
- NP543129.RAzx2RXhDluhQcfSlDd7w4dx6J1MJ4DsG1MzbeDgrphCw130_assertion evidence source_evidence_literature NP543129.RAzx2RXhDluhQcfSlDd7w4dx6J1MJ4DsG1MzbeDgrphCw130_provenance.
- NP543129.RAzx2RXhDluhQcfSlDd7w4dx6J1MJ4DsG1MzbeDgrphCw130_assertion SIO_000772 16583246 NP543129.RAzx2RXhDluhQcfSlDd7w4dx6J1MJ4DsG1MzbeDgrphCw130_provenance.
- NP543129.RAzx2RXhDluhQcfSlDd7w4dx6J1MJ4DsG1MzbeDgrphCw130_assertion wasDerivedFrom befree-2016 NP543129.RAzx2RXhDluhQcfSlDd7w4dx6J1MJ4DsG1MzbeDgrphCw130_provenance.
- NP543129.RAzx2RXhDluhQcfSlDd7w4dx6J1MJ4DsG1MzbeDgrphCw130_assertion wasGeneratedBy ECO_0000203 NP543129.RAzx2RXhDluhQcfSlDd7w4dx6J1MJ4DsG1MzbeDgrphCw130_provenance.
- befree-2016 importedOn "2016-02-19" NP543129.RAzx2RXhDluhQcfSlDd7w4dx6J1MJ4DsG1MzbeDgrphCw130_provenance.