Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP364486.RA5YYtqY6qL-QckPFeYBPFTN60-r_hIS4IG4_xN9BoKZA130_assertion> ?p ?o ?g. }
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- NP364486.RA5YYtqY6qL-QckPFeYBPFTN60-r_hIS4IG4_xN9BoKZA130_assertion type Assertion NP364486.RA5YYtqY6qL-QckPFeYBPFTN60-r_hIS4IG4_xN9BoKZA130_head.
- NP364486.RA5YYtqY6qL-QckPFeYBPFTN60-r_hIS4IG4_xN9BoKZA130_assertion description "[Mandibuloacral dysplasia (MAD; OMIM 248370) is a rare, genetically and phenotypically heterogeneous, autosomal recessive disorder characterized by skeletal abnormalities including hypoplasia of the mandible and clavicles, acro-osteolysis, cutaneous atrophy and lipodystrophy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP364486.RA5YYtqY6qL-QckPFeYBPFTN60-r_hIS4IG4_xN9BoKZA130_provenance.
- NP364486.RA5YYtqY6qL-QckPFeYBPFTN60-r_hIS4IG4_xN9BoKZA130_assertion evidence source_evidence_literature NP364486.RA5YYtqY6qL-QckPFeYBPFTN60-r_hIS4IG4_xN9BoKZA130_provenance.
- NP364486.RA5YYtqY6qL-QckPFeYBPFTN60-r_hIS4IG4_xN9BoKZA130_assertion SIO_000772 12913070 NP364486.RA5YYtqY6qL-QckPFeYBPFTN60-r_hIS4IG4_xN9BoKZA130_provenance.
- NP364486.RA5YYtqY6qL-QckPFeYBPFTN60-r_hIS4IG4_xN9BoKZA130_assertion wasDerivedFrom befree-20140225 NP364486.RA5YYtqY6qL-QckPFeYBPFTN60-r_hIS4IG4_xN9BoKZA130_provenance.
- NP364486.RA5YYtqY6qL-QckPFeYBPFTN60-r_hIS4IG4_xN9BoKZA130_assertion wasGeneratedBy ECO_0000203 NP364486.RA5YYtqY6qL-QckPFeYBPFTN60-r_hIS4IG4_xN9BoKZA130_provenance.