http://rdf.disgenet.org/resource/nanopub/NP502741.RAJPSY0mqvqMoBs0wFMYDwhwt-QMZsGxIuHAPTbDlB6Wk130_head http://rdf.disgenet.org/resource/nanopub/NP502741.RAJPSY0mqvqMoBs0wFMYDwhwt-QMZsGxIuHAPTbDlB6Wk http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP502741.RAJPSY0mqvqMoBs0wFMYDwhwt-QMZsGxIuHAPTbDlB6Wk130_assertion http://rdf.disgenet.org/resource/nanopub/NP502741.RAJPSY0mqvqMoBs0wFMYDwhwt-QMZsGxIuHAPTbDlB6Wk http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP502741.RAJPSY0mqvqMoBs0wFMYDwhwt-QMZsGxIuHAPTbDlB6Wk130_provenance http://rdf.disgenet.org/resource/nanopub/NP502741.RAJPSY0mqvqMoBs0wFMYDwhwt-QMZsGxIuHAPTbDlB6Wk http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP502741.RAJPSY0mqvqMoBs0wFMYDwhwt-QMZsGxIuHAPTbDlB6Wk130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP502741.RAJPSY0mqvqMoBs0wFMYDwhwt-QMZsGxIuHAPTbDlB6Wk http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP502741.RAJPSY0mqvqMoBs0wFMYDwhwt-QMZsGxIuHAPTbDlB6Wk130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP502741.RAJPSY0mqvqMoBs0wFMYDwhwt-QMZsGxIuHAPTbDlB6Wk130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP502741.RAJPSY0mqvqMoBs0wFMYDwhwt-QMZsGxIuHAPTbDlB6Wk130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP502741.RAJPSY0mqvqMoBs0wFMYDwhwt-QMZsGxIuHAPTbDlB6Wk130_assertion http://identifiers.org/ncbigene/4671 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/DGNef34d52469dc800cbaf50ca0783d9c8d http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/4671 http://rdf.disgenet.org/resource/gda/DGNef34d52469dc800cbaf50ca0783d9c8d http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0026847 http://rdf.disgenet.org/resource/gda/DGNef34d52469dc800cbaf50ca0783d9c8d http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP502741.RAJPSY0mqvqMoBs0wFMYDwhwt-QMZsGxIuHAPTbDlB6Wk130_provenance http://rdf.disgenet.org/resource/nanopub/NP502741.RAJPSY0mqvqMoBs0wFMYDwhwt-QMZsGxIuHAPTbDlB6Wk130_assertion http://purl.org/dc/terms/description [Our results suggest that extent of deletions encompassing H4F5, SMN1, NAIP and copy number of SMN2 gene can modify the SMA phenotype, thus accounting for the different clinical subtypes of the disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP502741.RAJPSY0mqvqMoBs0wFMYDwhwt-QMZsGxIuHAPTbDlB6Wk130_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/NP502741.RAJPSY0mqvqMoBs0wFMYDwhwt-QMZsGxIuHAPTbDlB6Wk130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/16000867 http://rdf.disgenet.org/resource/nanopub/NP502741.RAJPSY0mqvqMoBs0wFMYDwhwt-QMZsGxIuHAPTbDlB6Wk130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v4.0.0/void/befree-2016 http://rdf.disgenet.org/resource/nanopub/NP502741.RAJPSY0mqvqMoBs0wFMYDwhwt-QMZsGxIuHAPTbDlB6Wk130_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/NP502741.RAJPSY0mqvqMoBs0wFMYDwhwt-QMZsGxIuHAPTbDlB6Wk130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP502741.RAJPSY0mqvqMoBs0wFMYDwhwt-QMZsGxIuHAPTbDlB6Wk http://purl.org/dc/terms/created 2016-05-13T12:45:32+02:00 http://rdf.disgenet.org/resource/nanopub/NP502741.RAJPSY0mqvqMoBs0wFMYDwhwt-QMZsGxIuHAPTbDlB6Wk http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP502741.RAJPSY0mqvqMoBs0wFMYDwhwt-QMZsGxIuHAPTbDlB6Wk http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v4.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP502741.RAJPSY0mqvqMoBs0wFMYDwhwt-QMZsGxIuHAPTbDlB6Wk http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP502741.RAJPSY0mqvqMoBs0wFMYDwhwt-QMZsGxIuHAPTbDlB6Wk http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP502741.RAJPSY0mqvqMoBs0wFMYDwhwt-QMZsGxIuHAPTbDlB6Wk http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP502741.RAJPSY0mqvqMoBs0wFMYDwhwt-QMZsGxIuHAPTbDlB6Wk http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP502741.RAJPSY0mqvqMoBs0wFMYDwhwt-QMZsGxIuHAPTbDlB6Wk http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP502741.RAJPSY0mqvqMoBs0wFMYDwhwt-QMZsGxIuHAPTbDlB6Wk http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP502741.RAJPSY0mqvqMoBs0wFMYDwhwt-QMZsGxIuHAPTbDlB6Wk http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP502741.RAJPSY0mqvqMoBs0wFMYDwhwt-QMZsGxIuHAPTbDlB6Wk http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP502741.RAJPSY0mqvqMoBs0wFMYDwhwt-QMZsGxIuHAPTbDlB6Wk 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