Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP1357.RATyIz1J-BuH3dD8xhtc9ZQNOSx047MnZ6xLq8arq6YLc130_assertion> ?p ?o ?g. }
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- NP1357.RATyIz1J-BuH3dD8xhtc9ZQNOSx047MnZ6xLq8arq6YLc130_assertion type Assertion NP1357.RATyIz1J-BuH3dD8xhtc9ZQNOSx047MnZ6xLq8arq6YLc130_head.
- NP1357.RATyIz1J-BuH3dD8xhtc9ZQNOSx047MnZ6xLq8arq6YLc130_assertion description "[Report of five novel and one recurrent COL2A1 mutations with analysis of genotype-phenotype correlation in patients with a lethal type II collagen disorder.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1357.RATyIz1J-BuH3dD8xhtc9ZQNOSx047MnZ6xLq8arq6YLc130_provenance.
- NP1357.RATyIz1J-BuH3dD8xhtc9ZQNOSx047MnZ6xLq8arq6YLc130_assertion evidence source_evidence_curated NP1357.RATyIz1J-BuH3dD8xhtc9ZQNOSx047MnZ6xLq8arq6YLc130_provenance.
- NP1357.RATyIz1J-BuH3dD8xhtc9ZQNOSx047MnZ6xLq8arq6YLc130_assertion SIO_000772 10745044 NP1357.RATyIz1J-BuH3dD8xhtc9ZQNOSx047MnZ6xLq8arq6YLc130_provenance.
- NP1357.RATyIz1J-BuH3dD8xhtc9ZQNOSx047MnZ6xLq8arq6YLc130_assertion wasDerivedFrom uniprot-20130724 NP1357.RATyIz1J-BuH3dD8xhtc9ZQNOSx047MnZ6xLq8arq6YLc130_provenance.
- NP1357.RATyIz1J-BuH3dD8xhtc9ZQNOSx047MnZ6xLq8arq6YLc130_assertion wasGeneratedBy ECO_0000218 NP1357.RATyIz1J-BuH3dD8xhtc9ZQNOSx047MnZ6xLq8arq6YLc130_provenance.