Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP846026.RAJ90K2chB9ZjeSCwVAvH-4actM3iQ-gkHYWg9ajZyMAg130_assertion> ?p ?o ?g. }
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- NP846026.RAJ90K2chB9ZjeSCwVAvH-4actM3iQ-gkHYWg9ajZyMAg130_assertion type Assertion NP846026.RAJ90K2chB9ZjeSCwVAvH-4actM3iQ-gkHYWg9ajZyMAg130_head.
- NP846026.RAJ90K2chB9ZjeSCwVAvH-4actM3iQ-gkHYWg9ajZyMAg130_assertion description "[We now show compound heterozygous mutations, Phe361fsX379 and Trp340Arg, in the zinc metalloproteinase (ZMPSTE24) gene in one of the four patients who had severe MAD associated with progeroid appearance and generalized lipodystrophy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP846026.RAJ90K2chB9ZjeSCwVAvH-4actM3iQ-gkHYWg9ajZyMAg130_provenance.
- NP846026.RAJ90K2chB9ZjeSCwVAvH-4actM3iQ-gkHYWg9ajZyMAg130_assertion evidence source_evidence_literature NP846026.RAJ90K2chB9ZjeSCwVAvH-4actM3iQ-gkHYWg9ajZyMAg130_provenance.
- NP846026.RAJ90K2chB9ZjeSCwVAvH-4actM3iQ-gkHYWg9ajZyMAg130_assertion SIO_000772 12913070 NP846026.RAJ90K2chB9ZjeSCwVAvH-4actM3iQ-gkHYWg9ajZyMAg130_provenance.
- NP846026.RAJ90K2chB9ZjeSCwVAvH-4actM3iQ-gkHYWg9ajZyMAg130_assertion wasDerivedFrom befree-20140225 NP846026.RAJ90K2chB9ZjeSCwVAvH-4actM3iQ-gkHYWg9ajZyMAg130_provenance.
- NP846026.RAJ90K2chB9ZjeSCwVAvH-4actM3iQ-gkHYWg9ajZyMAg130_assertion wasGeneratedBy ECO_0000203 NP846026.RAJ90K2chB9ZjeSCwVAvH-4actM3iQ-gkHYWg9ajZyMAg130_provenance.