http://rdf.disgenet.org/resource/nanopub/NP1070379.RAO3SGUlsXMkQY6E-ULOOzUK8PYX0ycCs2hsLXybqwQXg130_head http://rdf.disgenet.org/resource/nanopub/NP1070379.RAO3SGUlsXMkQY6E-ULOOzUK8PYX0ycCs2hsLXybqwQXg http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP1070379.RAO3SGUlsXMkQY6E-ULOOzUK8PYX0ycCs2hsLXybqwQXg130_assertion http://rdf.disgenet.org/resource/nanopub/NP1070379.RAO3SGUlsXMkQY6E-ULOOzUK8PYX0ycCs2hsLXybqwQXg http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP1070379.RAO3SGUlsXMkQY6E-ULOOzUK8PYX0ycCs2hsLXybqwQXg130_provenance http://rdf.disgenet.org/resource/nanopub/NP1070379.RAO3SGUlsXMkQY6E-ULOOzUK8PYX0ycCs2hsLXybqwQXg http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP1070379.RAO3SGUlsXMkQY6E-ULOOzUK8PYX0ycCs2hsLXybqwQXg130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1070379.RAO3SGUlsXMkQY6E-ULOOzUK8PYX0ycCs2hsLXybqwQXg http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP1070379.RAO3SGUlsXMkQY6E-ULOOzUK8PYX0ycCs2hsLXybqwQXg130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP1070379.RAO3SGUlsXMkQY6E-ULOOzUK8PYX0ycCs2hsLXybqwQXg130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP1070379.RAO3SGUlsXMkQY6E-ULOOzUK8PYX0ycCs2hsLXybqwQXg130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP1070379.RAO3SGUlsXMkQY6E-ULOOzUK8PYX0ycCs2hsLXybqwQXg130_assertion http://identifiers.org/ncbigene/4868 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/C0027726 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/DGN4ab716ebe0ef62bef159ccbfe40c99d9 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/4868 http://rdf.disgenet.org/resource/gda/DGN4ab716ebe0ef62bef159ccbfe40c99d9 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0027726 http://rdf.disgenet.org/resource/gda/DGN4ab716ebe0ef62bef159ccbfe40c99d9 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP1070379.RAO3SGUlsXMkQY6E-ULOOzUK8PYX0ycCs2hsLXybqwQXg130_provenance http://rdf.disgenet.org/resource/nanopub/NP1070379.RAO3SGUlsXMkQY6E-ULOOzUK8PYX0ycCs2hsLXybqwQXg130_assertion http://purl.org/dc/terms/description [To determine the frequency of inherited NS, 62 cases (representing 49 families with NS) from Saudi Arabia were screened for mutations in NPHS1, NPHS2, LAMB2, PLCE1, CD2AP, MYO1E, WT1, PTPRO and Nei endonuclease VIII-like 1 (NEIL1).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP1070379.RAO3SGUlsXMkQY6E-ULOOzUK8PYX0ycCs2hsLXybqwQXg130_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/NP1070379.RAO3SGUlsXMkQY6E-ULOOzUK8PYX0ycCs2hsLXybqwQXg130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/23595123 http://rdf.disgenet.org/resource/nanopub/NP1070379.RAO3SGUlsXMkQY6E-ULOOzUK8PYX0ycCs2hsLXybqwQXg130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v4.0.0/void/befree-2016 http://rdf.disgenet.org/resource/nanopub/NP1070379.RAO3SGUlsXMkQY6E-ULOOzUK8PYX0ycCs2hsLXybqwQXg130_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/NP1070379.RAO3SGUlsXMkQY6E-ULOOzUK8PYX0ycCs2hsLXybqwQXg130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1070379.RAO3SGUlsXMkQY6E-ULOOzUK8PYX0ycCs2hsLXybqwQXg http://purl.org/dc/terms/created 2016-05-13T12:49:51+02:00 http://rdf.disgenet.org/resource/nanopub/NP1070379.RAO3SGUlsXMkQY6E-ULOOzUK8PYX0ycCs2hsLXybqwQXg http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP1070379.RAO3SGUlsXMkQY6E-ULOOzUK8PYX0ycCs2hsLXybqwQXg http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v4.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP1070379.RAO3SGUlsXMkQY6E-ULOOzUK8PYX0ycCs2hsLXybqwQXg http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP1070379.RAO3SGUlsXMkQY6E-ULOOzUK8PYX0ycCs2hsLXybqwQXg http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP1070379.RAO3SGUlsXMkQY6E-ULOOzUK8PYX0ycCs2hsLXybqwQXg http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP1070379.RAO3SGUlsXMkQY6E-ULOOzUK8PYX0ycCs2hsLXybqwQXg http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP1070379.RAO3SGUlsXMkQY6E-ULOOzUK8PYX0ycCs2hsLXybqwQXg http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP1070379.RAO3SGUlsXMkQY6E-ULOOzUK8PYX0ycCs2hsLXybqwQXg http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1070379.RAO3SGUlsXMkQY6E-ULOOzUK8PYX0ycCs2hsLXybqwQXg http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP1070379.RAO3SGUlsXMkQY6E-ULOOzUK8PYX0ycCs2hsLXybqwQXg http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1070379.RAO3SGUlsXMkQY6E-ULOOzUK8PYX0ycCs2hsLXybqwQXg 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