Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP34039.RAO74sTZrndpqu_CU_KO32P1WONoEAA9tNNpUF5NJh_Co130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP34039.RAO74sTZrndpqu_CU_KO32P1WONoEAA9tNNpUF5NJh_Co130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP34039.RAO74sTZrndpqu_CU_KO32P1WONoEAA9tNNpUF5NJh_Co130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP34039.RAO74sTZrndpqu_CU_KO32P1WONoEAA9tNNpUF5NJh_Co130_provenance.
- NP34039.RAO74sTZrndpqu_CU_KO32P1WONoEAA9tNNpUF5NJh_Co130_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." NP34039.RAO74sTZrndpqu_CU_KO32P1WONoEAA9tNNpUF5NJh_Co130_provenance.
- NP34039.RAO74sTZrndpqu_CU_KO32P1WONoEAA9tNNpUF5NJh_Co130_assertion evidence source_evidence_curated NP34039.RAO74sTZrndpqu_CU_KO32P1WONoEAA9tNNpUF5NJh_Co130_provenance.
- NP34039.RAO74sTZrndpqu_CU_KO32P1WONoEAA9tNNpUF5NJh_Co130_assertion SIO_000772 12913070 NP34039.RAO74sTZrndpqu_CU_KO32P1WONoEAA9tNNpUF5NJh_Co130_provenance.
- NP34039.RAO74sTZrndpqu_CU_KO32P1WONoEAA9tNNpUF5NJh_Co130_assertion wasDerivedFrom ctd_human-20130708 NP34039.RAO74sTZrndpqu_CU_KO32P1WONoEAA9tNNpUF5NJh_Co130_provenance.
- NP34039.RAO74sTZrndpqu_CU_KO32P1WONoEAA9tNNpUF5NJh_Co130_assertion wasGeneratedBy ECO_0000218 NP34039.RAO74sTZrndpqu_CU_KO32P1WONoEAA9tNNpUF5NJh_Co130_provenance.
- ctd_human-20130708 importedOn "2013-07-24" NP34039.RAO74sTZrndpqu_CU_KO32P1WONoEAA9tNNpUF5NJh_Co130_provenance.