Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP28600.RAEHayiAUfyhZjOhGeBWAhw7WZIAlhMuxG4QqJTQ3sKkI130_assertion> ?p ?o ?g. }
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- NP28600.RAEHayiAUfyhZjOhGeBWAhw7WZIAlhMuxG4QqJTQ3sKkI130_assertion type Assertion NP28600.RAEHayiAUfyhZjOhGeBWAhw7WZIAlhMuxG4QqJTQ3sKkI130_head.
- 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.