Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP778369.RAel8TlQvdZVT4xLfHyrhcbhW_Q2uSoVw67oMOPnuEO-c130_assertion> ?p ?o ?g. }
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- NP778369.RAel8TlQvdZVT4xLfHyrhcbhW_Q2uSoVw67oMOPnuEO-c130_assertion type Assertion NP778369.RAel8TlQvdZVT4xLfHyrhcbhW_Q2uSoVw67oMOPnuEO-c130_head.
- NP778369.RAel8TlQvdZVT4xLfHyrhcbhW_Q2uSoVw67oMOPnuEO-c130_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." NP778369.RAel8TlQvdZVT4xLfHyrhcbhW_Q2uSoVw67oMOPnuEO-c130_provenance.
- NP778369.RAel8TlQvdZVT4xLfHyrhcbhW_Q2uSoVw67oMOPnuEO-c130_assertion evidence source_evidence_literature NP778369.RAel8TlQvdZVT4xLfHyrhcbhW_Q2uSoVw67oMOPnuEO-c130_provenance.
- NP778369.RAel8TlQvdZVT4xLfHyrhcbhW_Q2uSoVw67oMOPnuEO-c130_assertion SIO_000772 12913070 NP778369.RAel8TlQvdZVT4xLfHyrhcbhW_Q2uSoVw67oMOPnuEO-c130_provenance.
- NP778369.RAel8TlQvdZVT4xLfHyrhcbhW_Q2uSoVw67oMOPnuEO-c130_assertion wasDerivedFrom befree-20140225 NP778369.RAel8TlQvdZVT4xLfHyrhcbhW_Q2uSoVw67oMOPnuEO-c130_provenance.
- NP778369.RAel8TlQvdZVT4xLfHyrhcbhW_Q2uSoVw67oMOPnuEO-c130_assertion wasGeneratedBy ECO_0000203 NP778369.RAel8TlQvdZVT4xLfHyrhcbhW_Q2uSoVw67oMOPnuEO-c130_provenance.