http://rdf.disgenet.org/resource/nanopub/NP858191.RA75hIB8YURQGC3Sl9YxDo1GI6Y5jiuhNrf2fsGEAK2k8130_head http://rdf.disgenet.org/resource/nanopub/NP858191.RA75hIB8YURQGC3Sl9YxDo1GI6Y5jiuhNrf2fsGEAK2k8 http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP858191.RA75hIB8YURQGC3Sl9YxDo1GI6Y5jiuhNrf2fsGEAK2k8130_assertion http://rdf.disgenet.org/resource/nanopub/NP858191.RA75hIB8YURQGC3Sl9YxDo1GI6Y5jiuhNrf2fsGEAK2k8 http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP858191.RA75hIB8YURQGC3Sl9YxDo1GI6Y5jiuhNrf2fsGEAK2k8130_provenance http://rdf.disgenet.org/resource/nanopub/NP858191.RA75hIB8YURQGC3Sl9YxDo1GI6Y5jiuhNrf2fsGEAK2k8 http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP858191.RA75hIB8YURQGC3Sl9YxDo1GI6Y5jiuhNrf2fsGEAK2k8130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP858191.RA75hIB8YURQGC3Sl9YxDo1GI6Y5jiuhNrf2fsGEAK2k8 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP858191.RA75hIB8YURQGC3Sl9YxDo1GI6Y5jiuhNrf2fsGEAK2k8130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP858191.RA75hIB8YURQGC3Sl9YxDo1GI6Y5jiuhNrf2fsGEAK2k8130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP858191.RA75hIB8YURQGC3Sl9YxDo1GI6Y5jiuhNrf2fsGEAK2k8130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP858191.RA75hIB8YURQGC3Sl9YxDo1GI6Y5jiuhNrf2fsGEAK2k8130_assertion http://identifiers.org/ncbigene/10993 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/C3714796 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/DGN054658923467421e86b7950f75730f21 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/10993 http://rdf.disgenet.org/resource/gda/DGN054658923467421e86b7950f75730f21 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C3714796 http://rdf.disgenet.org/resource/gda/DGN054658923467421e86b7950f75730f21 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP858191.RA75hIB8YURQGC3Sl9YxDo1GI6Y5jiuhNrf2fsGEAK2k8130_provenance http://rdf.disgenet.org/resource/nanopub/NP858191.RA75hIB8YURQGC3Sl9YxDo1GI6Y5jiuhNrf2fsGEAK2k8130_assertion http://purl.org/dc/terms/description [We describe two male siblings with IGHD due to a homozygous missense GHRHR mutation who, because they were started on hGH therapy at different ages, presented with different height SDS at the onset of puberty and therefore had different predicted target heights.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP858191.RA75hIB8YURQGC3Sl9YxDo1GI6Y5jiuhNrf2fsGEAK2k8130_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/NP858191.RA75hIB8YURQGC3Sl9YxDo1GI6Y5jiuhNrf2fsGEAK2k8130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/15237716 http://rdf.disgenet.org/resource/nanopub/NP858191.RA75hIB8YURQGC3Sl9YxDo1GI6Y5jiuhNrf2fsGEAK2k8130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v3.0.0/void/befree-20150227 http://rdf.disgenet.org/resource/nanopub/NP858191.RA75hIB8YURQGC3Sl9YxDo1GI6Y5jiuhNrf2fsGEAK2k8130_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/NP858191.RA75hIB8YURQGC3Sl9YxDo1GI6Y5jiuhNrf2fsGEAK2k8130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP858191.RA75hIB8YURQGC3Sl9YxDo1GI6Y5jiuhNrf2fsGEAK2k8 http://purl.org/dc/terms/created 2015-08-25T14:46:21+02:00 http://rdf.disgenet.org/resource/nanopub/NP858191.RA75hIB8YURQGC3Sl9YxDo1GI6Y5jiuhNrf2fsGEAK2k8 http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP858191.RA75hIB8YURQGC3Sl9YxDo1GI6Y5jiuhNrf2fsGEAK2k8 http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v3.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP858191.RA75hIB8YURQGC3Sl9YxDo1GI6Y5jiuhNrf2fsGEAK2k8 http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP858191.RA75hIB8YURQGC3Sl9YxDo1GI6Y5jiuhNrf2fsGEAK2k8 http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v3.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP858191.RA75hIB8YURQGC3Sl9YxDo1GI6Y5jiuhNrf2fsGEAK2k8 http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP858191.RA75hIB8YURQGC3Sl9YxDo1GI6Y5jiuhNrf2fsGEAK2k8 http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP858191.RA75hIB8YURQGC3Sl9YxDo1GI6Y5jiuhNrf2fsGEAK2k8 http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP858191.RA75hIB8YURQGC3Sl9YxDo1GI6Y5jiuhNrf2fsGEAK2k8 http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP858191.RA75hIB8YURQGC3Sl9YxDo1GI6Y5jiuhNrf2fsGEAK2k8 http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP858191.RA75hIB8YURQGC3Sl9YxDo1GI6Y5jiuhNrf2fsGEAK2k8 http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP858191.RA75hIB8YURQGC3Sl9YxDo1GI6Y5jiuhNrf2fsGEAK2k8 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