Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP319444.RA-5W5Y1ocu9i514WsN60g1JBEpvVP73IkMpigT-0vdH0130_assertion> ?p ?o ?g. }
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- NP319444.RA-5W5Y1ocu9i514WsN60g1JBEpvVP73IkMpigT-0vdH0130_assertion type Assertion NP319444.RA-5W5Y1ocu9i514WsN60g1JBEpvVP73IkMpigT-0vdH0130_head.
- NP319444.RA-5W5Y1ocu9i514WsN60g1JBEpvVP73IkMpigT-0vdH0130_assertion description "[Having explained the digital findings and macrocephaly, the skeletal changes were thought to fit best congenital spondyloepiphyseal dysplasia (SEDC MIM #183900), a type II collagen disorder.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP319444.RA-5W5Y1ocu9i514WsN60g1JBEpvVP73IkMpigT-0vdH0130_provenance.
- NP319444.RA-5W5Y1ocu9i514WsN60g1JBEpvVP73IkMpigT-0vdH0130_assertion evidence source_evidence_literature NP319444.RA-5W5Y1ocu9i514WsN60g1JBEpvVP73IkMpigT-0vdH0130_provenance.
- NP319444.RA-5W5Y1ocu9i514WsN60g1JBEpvVP73IkMpigT-0vdH0130_assertion SIO_000772 10678662 NP319444.RA-5W5Y1ocu9i514WsN60g1JBEpvVP73IkMpigT-0vdH0130_provenance.
- NP319444.RA-5W5Y1ocu9i514WsN60g1JBEpvVP73IkMpigT-0vdH0130_assertion wasDerivedFrom befree-20150227 NP319444.RA-5W5Y1ocu9i514WsN60g1JBEpvVP73IkMpigT-0vdH0130_provenance.
- NP319444.RA-5W5Y1ocu9i514WsN60g1JBEpvVP73IkMpigT-0vdH0130_assertion wasGeneratedBy ECO_0000203 NP319444.RA-5W5Y1ocu9i514WsN60g1JBEpvVP73IkMpigT-0vdH0130_provenance.