http://rdf.disgenet.org/nanopublications.trig#NP62008.RAJbdP2FjNCUkQ0cEYMelkAr15Pm6pW-9eUyXY7vb7QVA130_head http://rdf.disgenet.org/nanopublications.trig#NP62008.RAJbdP2FjNCUkQ0cEYMelkAr15Pm6pW-9eUyXY7vb7QVA http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/nanopublications.trig#NP62008.RAJbdP2FjNCUkQ0cEYMelkAr15Pm6pW-9eUyXY7vb7QVA130_assertion http://rdf.disgenet.org/nanopublications.trig#NP62008.RAJbdP2FjNCUkQ0cEYMelkAr15Pm6pW-9eUyXY7vb7QVA http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/nanopublications.trig#NP62008.RAJbdP2FjNCUkQ0cEYMelkAr15Pm6pW-9eUyXY7vb7QVA130_provenance http://rdf.disgenet.org/nanopublications.trig#NP62008.RAJbdP2FjNCUkQ0cEYMelkAr15Pm6pW-9eUyXY7vb7QVA http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP62008.RAJbdP2FjNCUkQ0cEYMelkAr15Pm6pW-9eUyXY7vb7QVA130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP62008.RAJbdP2FjNCUkQ0cEYMelkAr15Pm6pW-9eUyXY7vb7QVA http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/nanopublications.trig#NP62008.RAJbdP2FjNCUkQ0cEYMelkAr15Pm6pW-9eUyXY7vb7QVA130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/nanopublications.trig#NP62008.RAJbdP2FjNCUkQ0cEYMelkAr15Pm6pW-9eUyXY7vb7QVA130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/nanopublications.trig#NP62008.RAJbdP2FjNCUkQ0cEYMelkAr15Pm6pW-9eUyXY7vb7QVA130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP62008.RAJbdP2FjNCUkQ0cEYMelkAr15Pm6pW-9eUyXY7vb7QVA130_assertion http://identifiers.org/ncbigene/6606 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/C0026847 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#DGNa7114cff7c02489245982a5a5c2dfaf4 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/6606 http://rdf.disgenet.org/gene-disease-association.ttl#DGNa7114cff7c02489245982a5a5c2dfaf4 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0026847 http://rdf.disgenet.org/gene-disease-association.ttl#DGNa7114cff7c02489245982a5a5c2dfaf4 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/nanopublications.trig#NP62008.RAJbdP2FjNCUkQ0cEYMelkAr15Pm6pW-9eUyXY7vb7QVA130_provenance http://rdf.disgenet.org/nanopublications.trig#NP62008.RAJbdP2FjNCUkQ0cEYMelkAr15Pm6pW-9eUyXY7vb7QVA130_assertion http://purl.org/dc/terms/description [This cohort included 117 parents of children homozygously deleted for SMN1 (94% were carriers and 6% had two copies of SMN1; of these individuals, two in seven had the '2+0' genotype, two in seven were normal but had children carrying a de novo deletion and three in seven were unresolved), 158 individuals with a significant family history of SMA (47% had one copy, 49% had two copies and 4% had three copies of SMN1) and 146 individuals with no family history of SMA (90% had two copies, 2% had one copy and 8% had three copies of SMN1).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/nanopublications.trig#NP62008.RAJbdP2FjNCUkQ0cEYMelkAr15Pm6pW-9eUyXY7vb7QVA130_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#NP62008.RAJbdP2FjNCUkQ0cEYMelkAr15Pm6pW-9eUyXY7vb7QVA130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/17392705 http://rdf.disgenet.org/nanopublications.trig#NP62008.RAJbdP2FjNCUkQ0cEYMelkAr15Pm6pW-9eUyXY7vb7QVA130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v2.1.0/void.ttl#gad-20130706 http://rdf.disgenet.org/nanopublications.trig#NP62008.RAJbdP2FjNCUkQ0cEYMelkAr15Pm6pW-9eUyXY7vb7QVA130_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#gad-20130706 http://purl.org/pav/2.0/importedOn 2013-07-06 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#NP62008.RAJbdP2FjNCUkQ0cEYMelkAr15Pm6pW-9eUyXY7vb7QVA130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP62008.RAJbdP2FjNCUkQ0cEYMelkAr15Pm6pW-9eUyXY7vb7QVA http://purl.org/dc/terms/created 2014-10-02T12:32:29+02:00 http://rdf.disgenet.org/nanopublications.trig#NP62008.RAJbdP2FjNCUkQ0cEYMelkAr15Pm6pW-9eUyXY7vb7QVA http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/nanopublications.trig#NP62008.RAJbdP2FjNCUkQ0cEYMelkAr15Pm6pW-9eUyXY7vb7QVA http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v2.1.0/void.ttl#IBIGroup http://rdf.disgenet.org/nanopublications.trig#NP62008.RAJbdP2FjNCUkQ0cEYMelkAr15Pm6pW-9eUyXY7vb7QVA http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/nanopublications.trig#NP62008.RAJbdP2FjNCUkQ0cEYMelkAr15Pm6pW-9eUyXY7vb7QVA http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf http://rdf.disgenet.org/nanopublications.trig#NP62008.RAJbdP2FjNCUkQ0cEYMelkAr15Pm6pW-9eUyXY7vb7QVA http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/nanopublications.trig#NP62008.RAJbdP2FjNCUkQ0cEYMelkAr15Pm6pW-9eUyXY7vb7QVA http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/nanopublications.trig#NP62008.RAJbdP2FjNCUkQ0cEYMelkAr15Pm6pW-9eUyXY7vb7QVA http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/nanopublications.trig#NP62008.RAJbdP2FjNCUkQ0cEYMelkAr15Pm6pW-9eUyXY7vb7QVA http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP62008.RAJbdP2FjNCUkQ0cEYMelkAr15Pm6pW-9eUyXY7vb7QVA http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/nanopublications.trig#NP62008.RAJbdP2FjNCUkQ0cEYMelkAr15Pm6pW-9eUyXY7vb7QVA http://purl.org/pav/2.0/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP62008.RAJbdP2FjNCUkQ0cEYMelkAr15Pm6pW-9eUyXY7vb7QVA 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