Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP225451.RAK38FZMij3SSVmgUp0okBcImv3M3D4x6h8LycndAkUXE#assertion> ?p ?o ?g. }
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- assertion description "[Perinatal lethal osteogenesis imperfecta is the result of heterozygous mutations of the COL1A1 and COL1A2 genes.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
- assertion evidence source_evidence_literature provenance.
- assertion SIO_000772 10627137 provenance.
- assertion wasDerivedFrom BEFREE provenance.
- assertion wasGeneratedBy ECO_0000203 provenance.