Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP8775.RAD0dzV-cmXNzPCh6TaEeZJg_mYa2bN6VRDSqb6CUT5Z4130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP8775.RAD0dzV-cmXNzPCh6TaEeZJg_mYa2bN6VRDSqb6CUT5Z4130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP8775.RAD0dzV-cmXNzPCh6TaEeZJg_mYa2bN6VRDSqb6CUT5Z4130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP8775.RAD0dzV-cmXNzPCh6TaEeZJg_mYa2bN6VRDSqb6CUT5Z4130_provenance.
- uniprot-2016 importedOn "2016-01-25" NP8775.RAD0dzV-cmXNzPCh6TaEeZJg_mYa2bN6VRDSqb6CUT5Z4130_provenance.
- NP8775.RAD0dzV-cmXNzPCh6TaEeZJg_mYa2bN6VRDSqb6CUT5Z4130_assertion wasGeneratedBy ECO_0000218 NP8775.RAD0dzV-cmXNzPCh6TaEeZJg_mYa2bN6VRDSqb6CUT5Z4130_provenance.
- NP8775.RAD0dzV-cmXNzPCh6TaEeZJg_mYa2bN6VRDSqb6CUT5Z4130_assertion wasDerivedFrom uniprot-2016 NP8775.RAD0dzV-cmXNzPCh6TaEeZJg_mYa2bN6VRDSqb6CUT5Z4130_provenance.
- NP8775.RAD0dzV-cmXNzPCh6TaEeZJg_mYa2bN6VRDSqb6CUT5Z4130_assertion SIO_000772 8163671 NP8775.RAD0dzV-cmXNzPCh6TaEeZJg_mYa2bN6VRDSqb6CUT5Z4130_provenance.
- NP8775.RAD0dzV-cmXNzPCh6TaEeZJg_mYa2bN6VRDSqb6CUT5Z4130_assertion evidence source_evidence_curated NP8775.RAD0dzV-cmXNzPCh6TaEeZJg_mYa2bN6VRDSqb6CUT5Z4130_provenance.
- NP8775.RAD0dzV-cmXNzPCh6TaEeZJg_mYa2bN6VRDSqb6CUT5Z4130_assertion description "[In the present study, we have isolated and sequenced the complementary DNAs of two mutant alleles for lysyl hydroxylase (LH) in fibroblasts from one patient (AT750) with Ehlers-Danlos syndrome type VI (EDS VI).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP8775.RAD0dzV-cmXNzPCh6TaEeZJg_mYa2bN6VRDSqb6CUT5Z4130_provenance.