http://rdf.disgenet.org/resource/nanopub/NP1087639.RAK-i6lg1wDdi66LX5AcDgv74JzyIzcKAkKhOdCyCzoqM130_head http://rdf.disgenet.org/resource/nanopub/NP1087639.RAK-i6lg1wDdi66LX5AcDgv74JzyIzcKAkKhOdCyCzoqM http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP1087639.RAK-i6lg1wDdi66LX5AcDgv74JzyIzcKAkKhOdCyCzoqM130_assertion http://rdf.disgenet.org/resource/nanopub/NP1087639.RAK-i6lg1wDdi66LX5AcDgv74JzyIzcKAkKhOdCyCzoqM http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP1087639.RAK-i6lg1wDdi66LX5AcDgv74JzyIzcKAkKhOdCyCzoqM130_provenance http://rdf.disgenet.org/resource/nanopub/NP1087639.RAK-i6lg1wDdi66LX5AcDgv74JzyIzcKAkKhOdCyCzoqM http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP1087639.RAK-i6lg1wDdi66LX5AcDgv74JzyIzcKAkKhOdCyCzoqM130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1087639.RAK-i6lg1wDdi66LX5AcDgv74JzyIzcKAkKhOdCyCzoqM http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP1087639.RAK-i6lg1wDdi66LX5AcDgv74JzyIzcKAkKhOdCyCzoqM130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP1087639.RAK-i6lg1wDdi66LX5AcDgv74JzyIzcKAkKhOdCyCzoqM130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP1087639.RAK-i6lg1wDdi66LX5AcDgv74JzyIzcKAkKhOdCyCzoqM130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP1087639.RAK-i6lg1wDdi66LX5AcDgv74JzyIzcKAkKhOdCyCzoqM130_assertion http://identifiers.org/ncbigene/8036 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/C0024141 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/DGN03f29133bb2de0dafa109d587bb4e44d http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/8036 http://rdf.disgenet.org/resource/gda/DGN03f29133bb2de0dafa109d587bb4e44d http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0024141 http://rdf.disgenet.org/resource/gda/DGN03f29133bb2de0dafa109d587bb4e44d http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP1087639.RAK-i6lg1wDdi66LX5AcDgv74JzyIzcKAkKhOdCyCzoqM130_provenance http://rdf.disgenet.org/resource/nanopub/NP1087639.RAK-i6lg1wDdi66LX5AcDgv74JzyIzcKAkKhOdCyCzoqM130_assertion http://purl.org/dc/terms/description [We reported for the first time a case of 13-year-old boy with NS with loose anagen hair (NSLAH) resulting from mutation in SHOC2 who developed an autoimmune disorder that fulfilled four American College of Rheumatology (ACR) criteria for the classification of SLE (polyarthritis, pericarditis, antinuclear antibodies, and anti-DNA antibodies).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP1087639.RAK-i6lg1wDdi66LX5AcDgv74JzyIzcKAkKhOdCyCzoqM130_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/NP1087639.RAK-i6lg1wDdi66LX5AcDgv74JzyIzcKAkKhOdCyCzoqM130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/23786871 http://rdf.disgenet.org/resource/nanopub/NP1087639.RAK-i6lg1wDdi66LX5AcDgv74JzyIzcKAkKhOdCyCzoqM130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v4.0.0/void/befree-2016 http://rdf.disgenet.org/resource/nanopub/NP1087639.RAK-i6lg1wDdi66LX5AcDgv74JzyIzcKAkKhOdCyCzoqM130_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/NP1087639.RAK-i6lg1wDdi66LX5AcDgv74JzyIzcKAkKhOdCyCzoqM130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1087639.RAK-i6lg1wDdi66LX5AcDgv74JzyIzcKAkKhOdCyCzoqM http://purl.org/dc/terms/created 2016-05-13T12:49:59+02:00 http://rdf.disgenet.org/resource/nanopub/NP1087639.RAK-i6lg1wDdi66LX5AcDgv74JzyIzcKAkKhOdCyCzoqM http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP1087639.RAK-i6lg1wDdi66LX5AcDgv74JzyIzcKAkKhOdCyCzoqM http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v4.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP1087639.RAK-i6lg1wDdi66LX5AcDgv74JzyIzcKAkKhOdCyCzoqM http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP1087639.RAK-i6lg1wDdi66LX5AcDgv74JzyIzcKAkKhOdCyCzoqM http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP1087639.RAK-i6lg1wDdi66LX5AcDgv74JzyIzcKAkKhOdCyCzoqM http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP1087639.RAK-i6lg1wDdi66LX5AcDgv74JzyIzcKAkKhOdCyCzoqM http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP1087639.RAK-i6lg1wDdi66LX5AcDgv74JzyIzcKAkKhOdCyCzoqM http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP1087639.RAK-i6lg1wDdi66LX5AcDgv74JzyIzcKAkKhOdCyCzoqM http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1087639.RAK-i6lg1wDdi66LX5AcDgv74JzyIzcKAkKhOdCyCzoqM http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP1087639.RAK-i6lg1wDdi66LX5AcDgv74JzyIzcKAkKhOdCyCzoqM http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1087639.RAK-i6lg1wDdi66LX5AcDgv74JzyIzcKAkKhOdCyCzoqM 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