Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP7162.RAmBs5JdioUC9-8bRiW8fk0Lv_BsAQItihDbH4z_wrSxM130_assertion> ?p ?o ?g. }
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- NP7162.RAmBs5JdioUC9-8bRiW8fk0Lv_BsAQItihDbH4z_wrSxM130_assertion type Assertion NP7162.RAmBs5JdioUC9-8bRiW8fk0Lv_BsAQItihDbH4z_wrSxM130_head.
- NP7162.RAmBs5JdioUC9-8bRiW8fk0Lv_BsAQItihDbH4z_wrSxM130_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." NP7162.RAmBs5JdioUC9-8bRiW8fk0Lv_BsAQItihDbH4z_wrSxM130_provenance.
- NP7162.RAmBs5JdioUC9-8bRiW8fk0Lv_BsAQItihDbH4z_wrSxM130_assertion evidence source_evidence_curated NP7162.RAmBs5JdioUC9-8bRiW8fk0Lv_BsAQItihDbH4z_wrSxM130_provenance.
- NP7162.RAmBs5JdioUC9-8bRiW8fk0Lv_BsAQItihDbH4z_wrSxM130_assertion SIO_000772 12913070 NP7162.RAmBs5JdioUC9-8bRiW8fk0Lv_BsAQItihDbH4z_wrSxM130_provenance.
- NP7162.RAmBs5JdioUC9-8bRiW8fk0Lv_BsAQItihDbH4z_wrSxM130_assertion wasDerivedFrom uniprot-20130724 NP7162.RAmBs5JdioUC9-8bRiW8fk0Lv_BsAQItihDbH4z_wrSxM130_provenance.
- NP7162.RAmBs5JdioUC9-8bRiW8fk0Lv_BsAQItihDbH4z_wrSxM130_assertion wasGeneratedBy ECO_0000218 NP7162.RAmBs5JdioUC9-8bRiW8fk0Lv_BsAQItihDbH4z_wrSxM130_provenance.