http://rdf.disgenet.org/resource/nanopub/NP929161.RAN4m_yhqjRuZccZTxkdpIxrtnrp-AvAScdRyJUybqSJU130_head http://rdf.disgenet.org/resource/nanopub/NP929161.RAN4m_yhqjRuZccZTxkdpIxrtnrp-AvAScdRyJUybqSJU http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP929161.RAN4m_yhqjRuZccZTxkdpIxrtnrp-AvAScdRyJUybqSJU130_assertion http://rdf.disgenet.org/resource/nanopub/NP929161.RAN4m_yhqjRuZccZTxkdpIxrtnrp-AvAScdRyJUybqSJU http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP929161.RAN4m_yhqjRuZccZTxkdpIxrtnrp-AvAScdRyJUybqSJU130_provenance http://rdf.disgenet.org/resource/nanopub/NP929161.RAN4m_yhqjRuZccZTxkdpIxrtnrp-AvAScdRyJUybqSJU http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP929161.RAN4m_yhqjRuZccZTxkdpIxrtnrp-AvAScdRyJUybqSJU130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP929161.RAN4m_yhqjRuZccZTxkdpIxrtnrp-AvAScdRyJUybqSJU http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP929161.RAN4m_yhqjRuZccZTxkdpIxrtnrp-AvAScdRyJUybqSJU130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP929161.RAN4m_yhqjRuZccZTxkdpIxrtnrp-AvAScdRyJUybqSJU130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP929161.RAN4m_yhqjRuZccZTxkdpIxrtnrp-AvAScdRyJUybqSJU130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP929161.RAN4m_yhqjRuZccZTxkdpIxrtnrp-AvAScdRyJUybqSJU130_assertion http://identifiers.org/ncbigene/57190 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/C0036439 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/DGN647a3b4e596b47e3d4d31e70274d441f http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/57190 http://rdf.disgenet.org/resource/gda/DGN647a3b4e596b47e3d4d31e70274d441f http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0036439 http://rdf.disgenet.org/resource/gda/DGN647a3b4e596b47e3d4d31e70274d441f http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP929161.RAN4m_yhqjRuZccZTxkdpIxrtnrp-AvAScdRyJUybqSJU130_provenance http://rdf.disgenet.org/resource/nanopub/NP929161.RAN4m_yhqjRuZccZTxkdpIxrtnrp-AvAScdRyJUybqSJU130_assertion http://purl.org/dc/terms/description [We sequenced SEPN1 in five unrelated CFTD patients with scoliosis and respiratory muscle weakness and screened an additional 22 CFTD patients for abnormalities in SEPN1 by Western blotting and restriction digest for the 943G-->A mutation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP929161.RAN4m_yhqjRuZccZTxkdpIxrtnrp-AvAScdRyJUybqSJU130_assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v3.0.0/void/source_evidence_literature http://rdf.disgenet.org/resource/nanopub/NP929161.RAN4m_yhqjRuZccZTxkdpIxrtnrp-AvAScdRyJUybqSJU130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/16365872 http://rdf.disgenet.org/resource/nanopub/NP929161.RAN4m_yhqjRuZccZTxkdpIxrtnrp-AvAScdRyJUybqSJU130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v3.0.0/void/befree-20150227 http://rdf.disgenet.org/resource/nanopub/NP929161.RAN4m_yhqjRuZccZTxkdpIxrtnrp-AvAScdRyJUybqSJU130_assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/ECO_0000203 http://rdf.disgenet.org/v3.0.0/void/befree-20150227 http://purl.org/pav/importedOn 2015-02-27 http://rdf.disgenet.org/v3.0.0/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/v3.0.0/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/v3.0.0/void/source_evidence_literature http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - LITERATURE http://rdf.disgenet.org/resource/nanopub/NP929161.RAN4m_yhqjRuZccZTxkdpIxrtnrp-AvAScdRyJUybqSJU130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP929161.RAN4m_yhqjRuZccZTxkdpIxrtnrp-AvAScdRyJUybqSJU http://purl.org/dc/terms/created 2015-08-25T14:47:07+02:00 http://rdf.disgenet.org/resource/nanopub/NP929161.RAN4m_yhqjRuZccZTxkdpIxrtnrp-AvAScdRyJUybqSJU http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP929161.RAN4m_yhqjRuZccZTxkdpIxrtnrp-AvAScdRyJUybqSJU http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v3.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP929161.RAN4m_yhqjRuZccZTxkdpIxrtnrp-AvAScdRyJUybqSJU http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP929161.RAN4m_yhqjRuZccZTxkdpIxrtnrp-AvAScdRyJUybqSJU http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v3.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP929161.RAN4m_yhqjRuZccZTxkdpIxrtnrp-AvAScdRyJUybqSJU http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP929161.RAN4m_yhqjRuZccZTxkdpIxrtnrp-AvAScdRyJUybqSJU http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP929161.RAN4m_yhqjRuZccZTxkdpIxrtnrp-AvAScdRyJUybqSJU http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP929161.RAN4m_yhqjRuZccZTxkdpIxrtnrp-AvAScdRyJUybqSJU http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP929161.RAN4m_yhqjRuZccZTxkdpIxrtnrp-AvAScdRyJUybqSJU http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP929161.RAN4m_yhqjRuZccZTxkdpIxrtnrp-AvAScdRyJUybqSJU http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP929161.RAN4m_yhqjRuZccZTxkdpIxrtnrp-AvAScdRyJUybqSJU http://purl.org/pav/version v3.0.0.0 http://rdf.disgenet.org/v3.0.0/void/disgenetv3.0rdf http://purl.org/pav/version v3.0.0