Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP28600.RAEHayiAUfyhZjOhGeBWAhw7WZIAlhMuxG4QqJTQ3sKkI130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP28600.RAEHayiAUfyhZjOhGeBWAhw7WZIAlhMuxG4QqJTQ3sKkI130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP28600.RAEHayiAUfyhZjOhGeBWAhw7WZIAlhMuxG4QqJTQ3sKkI130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP28600.RAEHayiAUfyhZjOhGeBWAhw7WZIAlhMuxG4QqJTQ3sKkI130_provenance.
- NP28600.RAEHayiAUfyhZjOhGeBWAhw7WZIAlhMuxG4QqJTQ3sKkI130_assertion description "[Autosomal recessive Robinow syndrome is caused by mutations in ROR2 and is characterized by short stature, mesomelic limb shortening, brachydactyly, vertebral abnormalities, and a characteristic `fetal face` dysmorphology.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP28600.RAEHayiAUfyhZjOhGeBWAhw7WZIAlhMuxG4QqJTQ3sKkI130_provenance.
- NP28600.RAEHayiAUfyhZjOhGeBWAhw7WZIAlhMuxG4QqJTQ3sKkI130_assertion evidence source_evidence_curated NP28600.RAEHayiAUfyhZjOhGeBWAhw7WZIAlhMuxG4QqJTQ3sKkI130_provenance.
- NP28600.RAEHayiAUfyhZjOhGeBWAhw7WZIAlhMuxG4QqJTQ3sKkI130_assertion SIO_000772 15952209 NP28600.RAEHayiAUfyhZjOhGeBWAhw7WZIAlhMuxG4QqJTQ3sKkI130_provenance.
- NP28600.RAEHayiAUfyhZjOhGeBWAhw7WZIAlhMuxG4QqJTQ3sKkI130_assertion wasDerivedFrom ctd_human-20130708 NP28600.RAEHayiAUfyhZjOhGeBWAhw7WZIAlhMuxG4QqJTQ3sKkI130_provenance.
- NP28600.RAEHayiAUfyhZjOhGeBWAhw7WZIAlhMuxG4QqJTQ3sKkI130_assertion wasGeneratedBy ECO_0000218 NP28600.RAEHayiAUfyhZjOhGeBWAhw7WZIAlhMuxG4QqJTQ3sKkI130_provenance.
- ctd_human-20130708 importedOn "2013-07-24" NP28600.RAEHayiAUfyhZjOhGeBWAhw7WZIAlhMuxG4QqJTQ3sKkI130_provenance.