Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP24144.RAwRKsgMTHU6zlwcZnm7XRfBCiIgZ9d8NCv0wtsNU3RzE130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP24144.RAwRKsgMTHU6zlwcZnm7XRfBCiIgZ9d8NCv0wtsNU3RzE130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP24144.RAwRKsgMTHU6zlwcZnm7XRfBCiIgZ9d8NCv0wtsNU3RzE130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP24144.RAwRKsgMTHU6zlwcZnm7XRfBCiIgZ9d8NCv0wtsNU3RzE130_provenance.
- NP24144.RAwRKsgMTHU6zlwcZnm7XRfBCiIgZ9d8NCv0wtsNU3RzE130_assertion description "[Mutations in the heparan-sulfate proteoglycan glypican 6 (GPC6) impair endochondral ossification and cause recessive omodysplasia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP24144.RAwRKsgMTHU6zlwcZnm7XRfBCiIgZ9d8NCv0wtsNU3RzE130_provenance.
- NP24144.RAwRKsgMTHU6zlwcZnm7XRfBCiIgZ9d8NCv0wtsNU3RzE130_assertion evidence source_evidence_curated NP24144.RAwRKsgMTHU6zlwcZnm7XRfBCiIgZ9d8NCv0wtsNU3RzE130_provenance.
- NP24144.RAwRKsgMTHU6zlwcZnm7XRfBCiIgZ9d8NCv0wtsNU3RzE130_assertion SIO_000772 19481194 NP24144.RAwRKsgMTHU6zlwcZnm7XRfBCiIgZ9d8NCv0wtsNU3RzE130_provenance.
- NP24144.RAwRKsgMTHU6zlwcZnm7XRfBCiIgZ9d8NCv0wtsNU3RzE130_assertion wasDerivedFrom ctd_human-2016 NP24144.RAwRKsgMTHU6zlwcZnm7XRfBCiIgZ9d8NCv0wtsNU3RzE130_provenance.
- NP24144.RAwRKsgMTHU6zlwcZnm7XRfBCiIgZ9d8NCv0wtsNU3RzE130_assertion wasGeneratedBy ECO_0000218 NP24144.RAwRKsgMTHU6zlwcZnm7XRfBCiIgZ9d8NCv0wtsNU3RzE130_provenance.
- ctd_human-2016 importedOn "2016-01-25" NP24144.RAwRKsgMTHU6zlwcZnm7XRfBCiIgZ9d8NCv0wtsNU3RzE130_provenance.