http://rdf.disgenet.org/resource/nanopub/NP1382466.RAWP5JL-99_Fkf01DBtzOw-mDJXP0vRKTHbEeEO7v9c5w130_head http://rdf.disgenet.org/resource/nanopub/NP1382466.RAWP5JL-99_Fkf01DBtzOw-mDJXP0vRKTHbEeEO7v9c5w http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP1382466.RAWP5JL-99_Fkf01DBtzOw-mDJXP0vRKTHbEeEO7v9c5w130_assertion http://rdf.disgenet.org/resource/nanopub/NP1382466.RAWP5JL-99_Fkf01DBtzOw-mDJXP0vRKTHbEeEO7v9c5w http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP1382466.RAWP5JL-99_Fkf01DBtzOw-mDJXP0vRKTHbEeEO7v9c5w130_provenance http://rdf.disgenet.org/resource/nanopub/NP1382466.RAWP5JL-99_Fkf01DBtzOw-mDJXP0vRKTHbEeEO7v9c5w http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP1382466.RAWP5JL-99_Fkf01DBtzOw-mDJXP0vRKTHbEeEO7v9c5w130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1382466.RAWP5JL-99_Fkf01DBtzOw-mDJXP0vRKTHbEeEO7v9c5w http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP1382466.RAWP5JL-99_Fkf01DBtzOw-mDJXP0vRKTHbEeEO7v9c5w130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP1382466.RAWP5JL-99_Fkf01DBtzOw-mDJXP0vRKTHbEeEO7v9c5w130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP1382466.RAWP5JL-99_Fkf01DBtzOw-mDJXP0vRKTHbEeEO7v9c5w130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP1382466.RAWP5JL-99_Fkf01DBtzOw-mDJXP0vRKTHbEeEO7v9c5w130_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/resource/gda/DGNda36b5c90b6f9e021dfa5a33e6485b16 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/6606 http://rdf.disgenet.org/resource/gda/DGNda36b5c90b6f9e021dfa5a33e6485b16 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0026847 http://rdf.disgenet.org/resource/gda/DGNda36b5c90b6f9e021dfa5a33e6485b16 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP1382466.RAWP5JL-99_Fkf01DBtzOw-mDJXP0vRKTHbEeEO7v9c5w130_provenance http://rdf.disgenet.org/resource/nanopub/NP1382466.RAWP5JL-99_Fkf01DBtzOw-mDJXP0vRKTHbEeEO7v9c5w130_assertion http://purl.org/dc/terms/description [The molecular analysis of the survival motor neuron (SMN) gene and several closely flanking polymorphic markers in an atypical pedigree with four patients suffering from spinal muscular atrophy (SMA) over two generations has raised new aspects concerning the etiology and the molecular spectrum of autosomal recessive SMA.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP1382466.RAWP5JL-99_Fkf01DBtzOw-mDJXP0vRKTHbEeEO7v9c5w130_assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v4.0.0/void/source_evidence_literature http://rdf.disgenet.org/resource/nanopub/NP1382466.RAWP5JL-99_Fkf01DBtzOw-mDJXP0vRKTHbEeEO7v9c5w130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/9341891 http://rdf.disgenet.org/resource/nanopub/NP1382466.RAWP5JL-99_Fkf01DBtzOw-mDJXP0vRKTHbEeEO7v9c5w130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v4.0.0/void/befree-2016 http://rdf.disgenet.org/resource/nanopub/NP1382466.RAWP5JL-99_Fkf01DBtzOw-mDJXP0vRKTHbEeEO7v9c5w130_assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/ECO_0000203 http://rdf.disgenet.org/v4.0.0/void/befree-2016 http://purl.org/pav/importedOn 2016-02-19 http://rdf.disgenet.org/v4.0.0/void/source_evidence_literature http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://purl.obolibrary.org/obo/ECO_0000212 http://rdf.disgenet.org/v4.0.0/void/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/v4.0.0/void/source_evidence_literature http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - LITERATURE http://rdf.disgenet.org/resource/nanopub/NP1382466.RAWP5JL-99_Fkf01DBtzOw-mDJXP0vRKTHbEeEO7v9c5w130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1382466.RAWP5JL-99_Fkf01DBtzOw-mDJXP0vRKTHbEeEO7v9c5w http://purl.org/dc/terms/created 2016-05-13T12:52:12+02:00 http://rdf.disgenet.org/resource/nanopub/NP1382466.RAWP5JL-99_Fkf01DBtzOw-mDJXP0vRKTHbEeEO7v9c5w http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP1382466.RAWP5JL-99_Fkf01DBtzOw-mDJXP0vRKTHbEeEO7v9c5w http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v4.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP1382466.RAWP5JL-99_Fkf01DBtzOw-mDJXP0vRKTHbEeEO7v9c5w http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP1382466.RAWP5JL-99_Fkf01DBtzOw-mDJXP0vRKTHbEeEO7v9c5w http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP1382466.RAWP5JL-99_Fkf01DBtzOw-mDJXP0vRKTHbEeEO7v9c5w http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP1382466.RAWP5JL-99_Fkf01DBtzOw-mDJXP0vRKTHbEeEO7v9c5w http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP1382466.RAWP5JL-99_Fkf01DBtzOw-mDJXP0vRKTHbEeEO7v9c5w http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP1382466.RAWP5JL-99_Fkf01DBtzOw-mDJXP0vRKTHbEeEO7v9c5w http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1382466.RAWP5JL-99_Fkf01DBtzOw-mDJXP0vRKTHbEeEO7v9c5w http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP1382466.RAWP5JL-99_Fkf01DBtzOw-mDJXP0vRKTHbEeEO7v9c5w http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1382466.RAWP5JL-99_Fkf01DBtzOw-mDJXP0vRKTHbEeEO7v9c5w http://purl.org/pav/version v4.0.0.0 http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://purl.org/pav/version v4.0.0