Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP16161.RA1hm_hiMw7KroiE5ZKh5WffIyNpi7pZk5u_H1sxtJx8A130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP16161.RA1hm_hiMw7KroiE5ZKh5WffIyNpi7pZk5u_H1sxtJx8A130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP16161.RA1hm_hiMw7KroiE5ZKh5WffIyNpi7pZk5u_H1sxtJx8A130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP16161.RA1hm_hiMw7KroiE5ZKh5WffIyNpi7pZk5u_H1sxtJx8A130_provenance.
- NP16161.RA1hm_hiMw7KroiE5ZKh5WffIyNpi7pZk5u_H1sxtJx8A130_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." NP16161.RA1hm_hiMw7KroiE5ZKh5WffIyNpi7pZk5u_H1sxtJx8A130_provenance.
- NP16161.RA1hm_hiMw7KroiE5ZKh5WffIyNpi7pZk5u_H1sxtJx8A130_assertion evidence source_evidence_curated NP16161.RA1hm_hiMw7KroiE5ZKh5WffIyNpi7pZk5u_H1sxtJx8A130_provenance.
- NP16161.RA1hm_hiMw7KroiE5ZKh5WffIyNpi7pZk5u_H1sxtJx8A130_assertion SIO_000772 19481194 NP16161.RA1hm_hiMw7KroiE5ZKh5WffIyNpi7pZk5u_H1sxtJx8A130_provenance.
- NP16161.RA1hm_hiMw7KroiE5ZKh5WffIyNpi7pZk5u_H1sxtJx8A130_assertion wasDerivedFrom ctd_human-20150221 NP16161.RA1hm_hiMw7KroiE5ZKh5WffIyNpi7pZk5u_H1sxtJx8A130_provenance.
- NP16161.RA1hm_hiMw7KroiE5ZKh5WffIyNpi7pZk5u_H1sxtJx8A130_assertion wasGeneratedBy ECO_0000218 NP16161.RA1hm_hiMw7KroiE5ZKh5WffIyNpi7pZk5u_H1sxtJx8A130_provenance.
- ctd_human-20150221 importedOn "2015-02-21" NP16161.RA1hm_hiMw7KroiE5ZKh5WffIyNpi7pZk5u_H1sxtJx8A130_provenance.