Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP394239.RAnUbYMUpWqsfi2pVi5UmbAge97bzdco4fpokleT1AD3Q130_assertion> ?p ?o ?g. }
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- NP394239.RAnUbYMUpWqsfi2pVi5UmbAge97bzdco4fpokleT1AD3Q130_assertion type Assertion NP394239.RAnUbYMUpWqsfi2pVi5UmbAge97bzdco4fpokleT1AD3Q130_head.
- NP394239.RAnUbYMUpWqsfi2pVi5UmbAge97bzdco4fpokleT1AD3Q130_assertion description "[We present the first five cases of a new recessive bone disorder resulting from null LEPRE1 alleles; its phenotype overlaps with lethal/severe osteogenesis imperfecta but has distinctive features.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP394239.RAnUbYMUpWqsfi2pVi5UmbAge97bzdco4fpokleT1AD3Q130_provenance.
- NP394239.RAnUbYMUpWqsfi2pVi5UmbAge97bzdco4fpokleT1AD3Q130_assertion evidence source_evidence_literature NP394239.RAnUbYMUpWqsfi2pVi5UmbAge97bzdco4fpokleT1AD3Q130_provenance.
- NP394239.RAnUbYMUpWqsfi2pVi5UmbAge97bzdco4fpokleT1AD3Q130_assertion SIO_000772 17277775 NP394239.RAnUbYMUpWqsfi2pVi5UmbAge97bzdco4fpokleT1AD3Q130_provenance.
- NP394239.RAnUbYMUpWqsfi2pVi5UmbAge97bzdco4fpokleT1AD3Q130_assertion wasDerivedFrom befree-20140225 NP394239.RAnUbYMUpWqsfi2pVi5UmbAge97bzdco4fpokleT1AD3Q130_provenance.
- NP394239.RAnUbYMUpWqsfi2pVi5UmbAge97bzdco4fpokleT1AD3Q130_assertion wasGeneratedBy ECO_0000203 NP394239.RAnUbYMUpWqsfi2pVi5UmbAge97bzdco4fpokleT1AD3Q130_provenance.