Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP516068.RAq6NtKCsInaMaJd-y87lpjGysQhdYo-_PZkTwb--O50c130_assertion> ?p ?o ?g. }
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- NP516068.RAq6NtKCsInaMaJd-y87lpjGysQhdYo-_PZkTwb--O50c130_assertion type Assertion NP516068.RAq6NtKCsInaMaJd-y87lpjGysQhdYo-_PZkTwb--O50c130_head.
- NP516068.RAq6NtKCsInaMaJd-y87lpjGysQhdYo-_PZkTwb--O50c130_assertion description "[A mutation in the variable repeat region of the aggrecan gene (AGC1) causes a form of spondyloepiphyseal dysplasia associated with severe, premature osteoarthritis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP516068.RAq6NtKCsInaMaJd-y87lpjGysQhdYo-_PZkTwb--O50c130_provenance.
- NP516068.RAq6NtKCsInaMaJd-y87lpjGysQhdYo-_PZkTwb--O50c130_assertion evidence source_evidence_literature NP516068.RAq6NtKCsInaMaJd-y87lpjGysQhdYo-_PZkTwb--O50c130_provenance.
- NP516068.RAq6NtKCsInaMaJd-y87lpjGysQhdYo-_PZkTwb--O50c130_assertion SIO_000772 16080123 NP516068.RAq6NtKCsInaMaJd-y87lpjGysQhdYo-_PZkTwb--O50c130_provenance.
- NP516068.RAq6NtKCsInaMaJd-y87lpjGysQhdYo-_PZkTwb--O50c130_assertion wasDerivedFrom befree-20140225 NP516068.RAq6NtKCsInaMaJd-y87lpjGysQhdYo-_PZkTwb--O50c130_provenance.
- NP516068.RAq6NtKCsInaMaJd-y87lpjGysQhdYo-_PZkTwb--O50c130_assertion wasGeneratedBy ECO_0000203 NP516068.RAq6NtKCsInaMaJd-y87lpjGysQhdYo-_PZkTwb--O50c130_provenance.