Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP405187.RAVR08dyYgVSna9sWBkngbBrwEXhfTBxZmSnZB743FrsA130_assertion> ?p ?o ?g. }
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- NP405187.RAVR08dyYgVSna9sWBkngbBrwEXhfTBxZmSnZB743FrsA130_assertion type Assertion NP405187.RAVR08dyYgVSna9sWBkngbBrwEXhfTBxZmSnZB743FrsA130_head.
- NP405187.RAVR08dyYgVSna9sWBkngbBrwEXhfTBxZmSnZB743FrsA130_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." NP405187.RAVR08dyYgVSna9sWBkngbBrwEXhfTBxZmSnZB743FrsA130_provenance.
- NP405187.RAVR08dyYgVSna9sWBkngbBrwEXhfTBxZmSnZB743FrsA130_assertion evidence source_evidence_literature NP405187.RAVR08dyYgVSna9sWBkngbBrwEXhfTBxZmSnZB743FrsA130_provenance.
- NP405187.RAVR08dyYgVSna9sWBkngbBrwEXhfTBxZmSnZB743FrsA130_assertion SIO_000772 12913070 NP405187.RAVR08dyYgVSna9sWBkngbBrwEXhfTBxZmSnZB743FrsA130_provenance.
- NP405187.RAVR08dyYgVSna9sWBkngbBrwEXhfTBxZmSnZB743FrsA130_assertion wasDerivedFrom befree-2016 NP405187.RAVR08dyYgVSna9sWBkngbBrwEXhfTBxZmSnZB743FrsA130_provenance.
- NP405187.RAVR08dyYgVSna9sWBkngbBrwEXhfTBxZmSnZB743FrsA130_assertion wasGeneratedBy ECO_0000203 NP405187.RAVR08dyYgVSna9sWBkngbBrwEXhfTBxZmSnZB743FrsA130_provenance.