http://rdf.disgenet.org/nanopublications.trig#NP15672.RA4URZCzyZaxk98N2YhUu98cOJWXuWWJYT9-7b5UchGl4130_head http://rdf.disgenet.org/nanopublications.trig#NP15672.RA4URZCzyZaxk98N2YhUu98cOJWXuWWJYT9-7b5UchGl4 http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/nanopublications.trig#NP15672.RA4URZCzyZaxk98N2YhUu98cOJWXuWWJYT9-7b5UchGl4130_assertion http://rdf.disgenet.org/nanopublications.trig#NP15672.RA4URZCzyZaxk98N2YhUu98cOJWXuWWJYT9-7b5UchGl4 http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/nanopublications.trig#NP15672.RA4URZCzyZaxk98N2YhUu98cOJWXuWWJYT9-7b5UchGl4130_provenance http://rdf.disgenet.org/nanopublications.trig#NP15672.RA4URZCzyZaxk98N2YhUu98cOJWXuWWJYT9-7b5UchGl4 http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP15672.RA4URZCzyZaxk98N2YhUu98cOJWXuWWJYT9-7b5UchGl4130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP15672.RA4URZCzyZaxk98N2YhUu98cOJWXuWWJYT9-7b5UchGl4 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/nanopublications.trig#NP15672.RA4URZCzyZaxk98N2YhUu98cOJWXuWWJYT9-7b5UchGl4130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/nanopublications.trig#NP15672.RA4URZCzyZaxk98N2YhUu98cOJWXuWWJYT9-7b5UchGl4130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/nanopublications.trig#NP15672.RA4URZCzyZaxk98N2YhUu98cOJWXuWWJYT9-7b5UchGl4130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP15672.RA4URZCzyZaxk98N2YhUu98cOJWXuWWJYT9-7b5UchGl4130_assertion http://identifiers.org/ncbigene/2245 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/C0175701 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#DGNe5e441e295c1f471f0961401887c334b http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/2245 http://rdf.disgenet.org/gene-disease-association.ttl#DGNe5e441e295c1f471f0961401887c334b http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0175701 http://rdf.disgenet.org/gene-disease-association.ttl#DGNe5e441e295c1f471f0961401887c334b http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/nanopublications.trig#NP15672.RA4URZCzyZaxk98N2YhUu98cOJWXuWWJYT9-7b5UchGl4130_provenance http://rdf.disgenet.org/nanopublications.trig#NP15672.RA4URZCzyZaxk98N2YhUu98cOJWXuWWJYT9-7b5UchGl4130_assertion http://purl.org/dc/terms/description [In this study, we have conducted a single-strand conformation polymorphism (SSCP) analysis of the entire coding region of FGD1 in 46 AAS patients and identified eight novel mutations, including one insertion, four deletions and three missense mutations (19.56% detection rate).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/nanopublications.trig#NP15672.RA4URZCzyZaxk98N2YhUu98cOJWXuWWJYT9-7b5UchGl4130_assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v2.1.0/void.ttl#source_evidence_curated http://rdf.disgenet.org/nanopublications.trig#NP15672.RA4URZCzyZaxk98N2YhUu98cOJWXuWWJYT9-7b5UchGl4130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/14560308 http://rdf.disgenet.org/nanopublications.trig#NP15672.RA4URZCzyZaxk98N2YhUu98cOJWXuWWJYT9-7b5UchGl4130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v2.1.0/void.ttl#ctd_human-20130708 http://rdf.disgenet.org/nanopublications.trig#NP15672.RA4URZCzyZaxk98N2YhUu98cOJWXuWWJYT9-7b5UchGl4130_assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/eco.owl#ECO_0000218 http://rdf.disgenet.org/v2.1.0/void.ttl#ctd_human-20130708 http://purl.org/pav/2.0/importedOn 2013-07-24 http://rdf.disgenet.org/v2.1.0/void.ttl#source_evidence_curated http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://purl.obolibrary.org/obo/eco.owl#ECO_0000205 http://rdf.disgenet.org/v2.1.0/void.ttl#source_evidence_curated http://www.w3.org/2000/01/rdf-schema#comment Gene-disease associations manually curated. http://rdf.disgenet.org/v2.1.0/void.ttl#source_evidence_curated http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - CURATED http://rdf.disgenet.org/nanopublications.trig#NP15672.RA4URZCzyZaxk98N2YhUu98cOJWXuWWJYT9-7b5UchGl4130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP15672.RA4URZCzyZaxk98N2YhUu98cOJWXuWWJYT9-7b5UchGl4 http://purl.org/dc/terms/created 2014-10-02T12:32:05+02:00 http://rdf.disgenet.org/nanopublications.trig#NP15672.RA4URZCzyZaxk98N2YhUu98cOJWXuWWJYT9-7b5UchGl4 http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/nanopublications.trig#NP15672.RA4URZCzyZaxk98N2YhUu98cOJWXuWWJYT9-7b5UchGl4 http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v2.1.0/void.ttl#IBIGroup http://rdf.disgenet.org/nanopublications.trig#NP15672.RA4URZCzyZaxk98N2YhUu98cOJWXuWWJYT9-7b5UchGl4 http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/nanopublications.trig#NP15672.RA4URZCzyZaxk98N2YhUu98cOJWXuWWJYT9-7b5UchGl4 http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf http://rdf.disgenet.org/nanopublications.trig#NP15672.RA4URZCzyZaxk98N2YhUu98cOJWXuWWJYT9-7b5UchGl4 http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/nanopublications.trig#NP15672.RA4URZCzyZaxk98N2YhUu98cOJWXuWWJYT9-7b5UchGl4 http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/nanopublications.trig#NP15672.RA4URZCzyZaxk98N2YhUu98cOJWXuWWJYT9-7b5UchGl4 http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/nanopublications.trig#NP15672.RA4URZCzyZaxk98N2YhUu98cOJWXuWWJYT9-7b5UchGl4 http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP15672.RA4URZCzyZaxk98N2YhUu98cOJWXuWWJYT9-7b5UchGl4 http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/nanopublications.trig#NP15672.RA4URZCzyZaxk98N2YhUu98cOJWXuWWJYT9-7b5UchGl4 http://purl.org/pav/2.0/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP15672.RA4URZCzyZaxk98N2YhUu98cOJWXuWWJYT9-7b5UchGl4 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