Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP543129.RAzx2RXhDluhQcfSlDd7w4dx6J1MJ4DsG1MzbeDgrphCw130_assertion> ?p ?o ?g. }
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- NP543129.RAzx2RXhDluhQcfSlDd7w4dx6J1MJ4DsG1MzbeDgrphCw130_assertion type Assertion NP543129.RAzx2RXhDluhQcfSlDd7w4dx6J1MJ4DsG1MzbeDgrphCw130_head.
- 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.