http://rdf.disgenet.org/resource/nanopub/NP1378398.RAQK__-vOZIeuipgCJiiQiI2AkVRifd4xbstXn-tm_zfU130_head http://rdf.disgenet.org/resource/nanopub/NP1378398.RAQK__-vOZIeuipgCJiiQiI2AkVRifd4xbstXn-tm_zfU http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP1378398.RAQK__-vOZIeuipgCJiiQiI2AkVRifd4xbstXn-tm_zfU130_assertion http://rdf.disgenet.org/resource/nanopub/NP1378398.RAQK__-vOZIeuipgCJiiQiI2AkVRifd4xbstXn-tm_zfU http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP1378398.RAQK__-vOZIeuipgCJiiQiI2AkVRifd4xbstXn-tm_zfU130_provenance http://rdf.disgenet.org/resource/nanopub/NP1378398.RAQK__-vOZIeuipgCJiiQiI2AkVRifd4xbstXn-tm_zfU http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP1378398.RAQK__-vOZIeuipgCJiiQiI2AkVRifd4xbstXn-tm_zfU130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1378398.RAQK__-vOZIeuipgCJiiQiI2AkVRifd4xbstXn-tm_zfU http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP1378398.RAQK__-vOZIeuipgCJiiQiI2AkVRifd4xbstXn-tm_zfU130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP1378398.RAQK__-vOZIeuipgCJiiQiI2AkVRifd4xbstXn-tm_zfU130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP1378398.RAQK__-vOZIeuipgCJiiQiI2AkVRifd4xbstXn-tm_zfU130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP1378398.RAQK__-vOZIeuipgCJiiQiI2AkVRifd4xbstXn-tm_zfU130_assertion http://identifiers.org/ncbigene/2690 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/C0271568 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/DGNdb4cff318d144793f1884f189b68973b http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/2690 http://rdf.disgenet.org/resource/gda/DGNdb4cff318d144793f1884f189b68973b http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0271568 http://rdf.disgenet.org/resource/gda/DGNdb4cff318d144793f1884f189b68973b http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP1378398.RAQK__-vOZIeuipgCJiiQiI2AkVRifd4xbstXn-tm_zfU130_provenance http://rdf.disgenet.org/resource/nanopub/NP1378398.RAQK__-vOZIeuipgCJiiQiI2AkVRifd4xbstXn-tm_zfU130_assertion http://purl.org/dc/terms/description [To summarize the steps that led to the recognition of the Laron syndrome of growth-hormone (GH) insensitivity as a recessive disorder that is caused by mutations in the growth hormone receptor (GHR) gene, to discuss the different types of mutations that have been found in the GHR gene, and to examine whether the degree of growth impairment in affected homozygotes depends on the specific type of GHR mutation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP1378398.RAQK__-vOZIeuipgCJiiQiI2AkVRifd4xbstXn-tm_zfU130_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/NP1378398.RAQK__-vOZIeuipgCJiiQiI2AkVRifd4xbstXn-tm_zfU130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/9255228 http://rdf.disgenet.org/resource/nanopub/NP1378398.RAQK__-vOZIeuipgCJiiQiI2AkVRifd4xbstXn-tm_zfU130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v4.0.0/void/befree-2016 http://rdf.disgenet.org/resource/nanopub/NP1378398.RAQK__-vOZIeuipgCJiiQiI2AkVRifd4xbstXn-tm_zfU130_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/NP1378398.RAQK__-vOZIeuipgCJiiQiI2AkVRifd4xbstXn-tm_zfU130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1378398.RAQK__-vOZIeuipgCJiiQiI2AkVRifd4xbstXn-tm_zfU http://purl.org/dc/terms/created 2016-05-13T12:52:10+02:00 http://rdf.disgenet.org/resource/nanopub/NP1378398.RAQK__-vOZIeuipgCJiiQiI2AkVRifd4xbstXn-tm_zfU http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP1378398.RAQK__-vOZIeuipgCJiiQiI2AkVRifd4xbstXn-tm_zfU http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v4.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP1378398.RAQK__-vOZIeuipgCJiiQiI2AkVRifd4xbstXn-tm_zfU http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP1378398.RAQK__-vOZIeuipgCJiiQiI2AkVRifd4xbstXn-tm_zfU http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP1378398.RAQK__-vOZIeuipgCJiiQiI2AkVRifd4xbstXn-tm_zfU http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP1378398.RAQK__-vOZIeuipgCJiiQiI2AkVRifd4xbstXn-tm_zfU http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP1378398.RAQK__-vOZIeuipgCJiiQiI2AkVRifd4xbstXn-tm_zfU http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP1378398.RAQK__-vOZIeuipgCJiiQiI2AkVRifd4xbstXn-tm_zfU http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1378398.RAQK__-vOZIeuipgCJiiQiI2AkVRifd4xbstXn-tm_zfU http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP1378398.RAQK__-vOZIeuipgCJiiQiI2AkVRifd4xbstXn-tm_zfU http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1378398.RAQK__-vOZIeuipgCJiiQiI2AkVRifd4xbstXn-tm_zfU 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