http://rdf.disgenet.org/nanopublications.trig#NP593412.RArUPFFNamQ_SxKBJL7ndGByNZ9IQ3EdwldqgcvCZAULk130_head http://rdf.disgenet.org/nanopublications.trig#NP593412.RArUPFFNamQ_SxKBJL7ndGByNZ9IQ3EdwldqgcvCZAULk http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/nanopublications.trig#NP593412.RArUPFFNamQ_SxKBJL7ndGByNZ9IQ3EdwldqgcvCZAULk130_assertion http://rdf.disgenet.org/nanopublications.trig#NP593412.RArUPFFNamQ_SxKBJL7ndGByNZ9IQ3EdwldqgcvCZAULk http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/nanopublications.trig#NP593412.RArUPFFNamQ_SxKBJL7ndGByNZ9IQ3EdwldqgcvCZAULk130_provenance http://rdf.disgenet.org/nanopublications.trig#NP593412.RArUPFFNamQ_SxKBJL7ndGByNZ9IQ3EdwldqgcvCZAULk http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP593412.RArUPFFNamQ_SxKBJL7ndGByNZ9IQ3EdwldqgcvCZAULk130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP593412.RArUPFFNamQ_SxKBJL7ndGByNZ9IQ3EdwldqgcvCZAULk http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/nanopublications.trig#NP593412.RArUPFFNamQ_SxKBJL7ndGByNZ9IQ3EdwldqgcvCZAULk130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/nanopublications.trig#NP593412.RArUPFFNamQ_SxKBJL7ndGByNZ9IQ3EdwldqgcvCZAULk130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/nanopublications.trig#NP593412.RArUPFFNamQ_SxKBJL7ndGByNZ9IQ3EdwldqgcvCZAULk130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP593412.RArUPFFNamQ_SxKBJL7ndGByNZ9IQ3EdwldqgcvCZAULk130_assertion http://identifiers.org/ncbigene/3265 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/C0027868 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#DGN626152e8abf49e25374462099e032da7 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/3265 http://rdf.disgenet.org/gene-disease-association.ttl#DGN626152e8abf49e25374462099e032da7 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0027868 http://rdf.disgenet.org/gene-disease-association.ttl#DGN626152e8abf49e25374462099e032da7 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/nanopublications.trig#NP593412.RArUPFFNamQ_SxKBJL7ndGByNZ9IQ3EdwldqgcvCZAULk130_provenance http://rdf.disgenet.org/nanopublications.trig#NP593412.RArUPFFNamQ_SxKBJL7ndGByNZ9IQ3EdwldqgcvCZAULk130_assertion http://purl.org/dc/terms/description [However, some patients carrying HRAS mutations may exhibit prominent congenital muscular dysfunction, although features of CS may be less obvious, suggesting that germline HRAS mutations may underlie some cases of otherwise unclassified neonatal neuromuscular disorders.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/nanopublications.trig#NP593412.RArUPFFNamQ_SxKBJL7ndGByNZ9IQ3EdwldqgcvCZAULk130_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#NP593412.RArUPFFNamQ_SxKBJL7ndGByNZ9IQ3EdwldqgcvCZAULk130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/17412879 http://rdf.disgenet.org/nanopublications.trig#NP593412.RArUPFFNamQ_SxKBJL7ndGByNZ9IQ3EdwldqgcvCZAULk130_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#NP593412.RArUPFFNamQ_SxKBJL7ndGByNZ9IQ3EdwldqgcvCZAULk130_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#NP593412.RArUPFFNamQ_SxKBJL7ndGByNZ9IQ3EdwldqgcvCZAULk130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP593412.RArUPFFNamQ_SxKBJL7ndGByNZ9IQ3EdwldqgcvCZAULk http://purl.org/dc/terms/created 2014-10-02T12:37:57+02:00 http://rdf.disgenet.org/nanopublications.trig#NP593412.RArUPFFNamQ_SxKBJL7ndGByNZ9IQ3EdwldqgcvCZAULk http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/nanopublications.trig#NP593412.RArUPFFNamQ_SxKBJL7ndGByNZ9IQ3EdwldqgcvCZAULk http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v2.1.0/void.ttl#IBIGroup http://rdf.disgenet.org/nanopublications.trig#NP593412.RArUPFFNamQ_SxKBJL7ndGByNZ9IQ3EdwldqgcvCZAULk http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/nanopublications.trig#NP593412.RArUPFFNamQ_SxKBJL7ndGByNZ9IQ3EdwldqgcvCZAULk http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf http://rdf.disgenet.org/nanopublications.trig#NP593412.RArUPFFNamQ_SxKBJL7ndGByNZ9IQ3EdwldqgcvCZAULk http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/nanopublications.trig#NP593412.RArUPFFNamQ_SxKBJL7ndGByNZ9IQ3EdwldqgcvCZAULk http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/nanopublications.trig#NP593412.RArUPFFNamQ_SxKBJL7ndGByNZ9IQ3EdwldqgcvCZAULk http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/nanopublications.trig#NP593412.RArUPFFNamQ_SxKBJL7ndGByNZ9IQ3EdwldqgcvCZAULk http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP593412.RArUPFFNamQ_SxKBJL7ndGByNZ9IQ3EdwldqgcvCZAULk http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/nanopublications.trig#NP593412.RArUPFFNamQ_SxKBJL7ndGByNZ9IQ3EdwldqgcvCZAULk http://purl.org/pav/2.0/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP593412.RArUPFFNamQ_SxKBJL7ndGByNZ9IQ3EdwldqgcvCZAULk 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