http://rdf.disgenet.org/nanopublications.trig#NP515055.RA6OP3kqmjLQXhewFifhu8lG57OimfmjHUjS6sXWPpzwY130_head http://rdf.disgenet.org/nanopublications.trig#NP515055.RA6OP3kqmjLQXhewFifhu8lG57OimfmjHUjS6sXWPpzwY http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/nanopublications.trig#NP515055.RA6OP3kqmjLQXhewFifhu8lG57OimfmjHUjS6sXWPpzwY130_assertion http://rdf.disgenet.org/nanopublications.trig#NP515055.RA6OP3kqmjLQXhewFifhu8lG57OimfmjHUjS6sXWPpzwY http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/nanopublications.trig#NP515055.RA6OP3kqmjLQXhewFifhu8lG57OimfmjHUjS6sXWPpzwY130_provenance http://rdf.disgenet.org/nanopublications.trig#NP515055.RA6OP3kqmjLQXhewFifhu8lG57OimfmjHUjS6sXWPpzwY http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP515055.RA6OP3kqmjLQXhewFifhu8lG57OimfmjHUjS6sXWPpzwY130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP515055.RA6OP3kqmjLQXhewFifhu8lG57OimfmjHUjS6sXWPpzwY http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/nanopublications.trig#NP515055.RA6OP3kqmjLQXhewFifhu8lG57OimfmjHUjS6sXWPpzwY130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/nanopublications.trig#NP515055.RA6OP3kqmjLQXhewFifhu8lG57OimfmjHUjS6sXWPpzwY130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/nanopublications.trig#NP515055.RA6OP3kqmjLQXhewFifhu8lG57OimfmjHUjS6sXWPpzwY130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP515055.RA6OP3kqmjLQXhewFifhu8lG57OimfmjHUjS6sXWPpzwY130_assertion http://identifiers.org/ncbigene/4084 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C16612 http://linkedlifedata.com/resource/umls/id/C0221032 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C7057 http://rdf.disgenet.org/gene-disease-association.ttl#DGN10658c9996ddc8375f8530dcc4e86cde http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/4084 http://rdf.disgenet.org/gene-disease-association.ttl#DGN10658c9996ddc8375f8530dcc4e86cde http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0221032 http://rdf.disgenet.org/gene-disease-association.ttl#DGN10658c9996ddc8375f8530dcc4e86cde http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/nanopublications.trig#NP515055.RA6OP3kqmjLQXhewFifhu8lG57OimfmjHUjS6sXWPpzwY130_provenance http://rdf.disgenet.org/nanopublications.trig#NP515055.RA6OP3kqmjLQXhewFifhu8lG57OimfmjHUjS6sXWPpzwY130_assertion http://purl.org/dc/terms/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. http://rdf.disgenet.org/nanopublications.trig#NP515055.RA6OP3kqmjLQXhewFifhu8lG57OimfmjHUjS6sXWPpzwY130_assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v2.1.0/void.ttl#source_evidence_literature http://rdf.disgenet.org/nanopublications.trig#NP515055.RA6OP3kqmjLQXhewFifhu8lG57OimfmjHUjS6sXWPpzwY130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/12913070 http://rdf.disgenet.org/nanopublications.trig#NP515055.RA6OP3kqmjLQXhewFifhu8lG57OimfmjHUjS6sXWPpzwY130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v2.1.0/void.ttl#befree-20140225 http://rdf.disgenet.org/nanopublications.trig#NP515055.RA6OP3kqmjLQXhewFifhu8lG57OimfmjHUjS6sXWPpzwY130_assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/eco.owl#ECO_0000203 http://rdf.disgenet.org/v2.1.0/void.ttl#befree-20140225 http://purl.org/pav/2.0/importedOn 2014-02-25 http://rdf.disgenet.org/v2.1.0/void.ttl#source_evidence_literature http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://purl.obolibrary.org/obo/eco.owl#ECO_0000212 http://rdf.disgenet.org/v2.1.0/void.ttl#source_evidence_literature http://www.w3.org/2000/01/rdf-schema#comment Gene-disease associations inferred from text-mining the literature. http://rdf.disgenet.org/v2.1.0/void.ttl#source_evidence_literature http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - LITERATURE http://rdf.disgenet.org/nanopublications.trig#NP515055.RA6OP3kqmjLQXhewFifhu8lG57OimfmjHUjS6sXWPpzwY130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP515055.RA6OP3kqmjLQXhewFifhu8lG57OimfmjHUjS6sXWPpzwY http://purl.org/dc/terms/created 2014-10-02T12:37:07+02:00 http://rdf.disgenet.org/nanopublications.trig#NP515055.RA6OP3kqmjLQXhewFifhu8lG57OimfmjHUjS6sXWPpzwY http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/nanopublications.trig#NP515055.RA6OP3kqmjLQXhewFifhu8lG57OimfmjHUjS6sXWPpzwY http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v2.1.0/void.ttl#IBIGroup http://rdf.disgenet.org/nanopublications.trig#NP515055.RA6OP3kqmjLQXhewFifhu8lG57OimfmjHUjS6sXWPpzwY http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/nanopublications.trig#NP515055.RA6OP3kqmjLQXhewFifhu8lG57OimfmjHUjS6sXWPpzwY http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf http://rdf.disgenet.org/nanopublications.trig#NP515055.RA6OP3kqmjLQXhewFifhu8lG57OimfmjHUjS6sXWPpzwY http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/nanopublications.trig#NP515055.RA6OP3kqmjLQXhewFifhu8lG57OimfmjHUjS6sXWPpzwY http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/nanopublications.trig#NP515055.RA6OP3kqmjLQXhewFifhu8lG57OimfmjHUjS6sXWPpzwY http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/nanopublications.trig#NP515055.RA6OP3kqmjLQXhewFifhu8lG57OimfmjHUjS6sXWPpzwY http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP515055.RA6OP3kqmjLQXhewFifhu8lG57OimfmjHUjS6sXWPpzwY http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/nanopublications.trig#NP515055.RA6OP3kqmjLQXhewFifhu8lG57OimfmjHUjS6sXWPpzwY http://purl.org/pav/2.0/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP515055.RA6OP3kqmjLQXhewFifhu8lG57OimfmjHUjS6sXWPpzwY http://purl.org/pav/2.0/version v2.1.0.0 http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf http://purl.org/pav/2.0/version v2.1.0