http://rdf.disgenet.org/resource/nanopub/NP870021.RAL6u9jjzazCgnH4tVrvhUStvDREoIz2i6DIbYE0YS4nE130_head http://rdf.disgenet.org/resource/nanopub/NP870021.RAL6u9jjzazCgnH4tVrvhUStvDREoIz2i6DIbYE0YS4nE http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP870021.RAL6u9jjzazCgnH4tVrvhUStvDREoIz2i6DIbYE0YS4nE130_assertion http://rdf.disgenet.org/resource/nanopub/NP870021.RAL6u9jjzazCgnH4tVrvhUStvDREoIz2i6DIbYE0YS4nE http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP870021.RAL6u9jjzazCgnH4tVrvhUStvDREoIz2i6DIbYE0YS4nE130_provenance http://rdf.disgenet.org/resource/nanopub/NP870021.RAL6u9jjzazCgnH4tVrvhUStvDREoIz2i6DIbYE0YS4nE http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP870021.RAL6u9jjzazCgnH4tVrvhUStvDREoIz2i6DIbYE0YS4nE130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP870021.RAL6u9jjzazCgnH4tVrvhUStvDREoIz2i6DIbYE0YS4nE http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP870021.RAL6u9jjzazCgnH4tVrvhUStvDREoIz2i6DIbYE0YS4nE130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP870021.RAL6u9jjzazCgnH4tVrvhUStvDREoIz2i6DIbYE0YS4nE130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP870021.RAL6u9jjzazCgnH4tVrvhUStvDREoIz2i6DIbYE0YS4nE130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP870021.RAL6u9jjzazCgnH4tVrvhUStvDREoIz2i6DIbYE0YS4nE130_assertion http://identifiers.org/ncbigene/2798 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/C0342538 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/DGN428165d8dbde71eaeda40bcd6c35b57a http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/2798 http://rdf.disgenet.org/resource/gda/DGN428165d8dbde71eaeda40bcd6c35b57a http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0342538 http://rdf.disgenet.org/resource/gda/DGN428165d8dbde71eaeda40bcd6c35b57a http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP870021.RAL6u9jjzazCgnH4tVrvhUStvDREoIz2i6DIbYE0YS4nE130_provenance http://rdf.disgenet.org/resource/nanopub/NP870021.RAL6u9jjzazCgnH4tVrvhUStvDREoIz2i6DIbYE0YS4nE130_assertion http://purl.org/dc/terms/description [Although one male subject carried a previously undescribed heterozygous deletion (Phe309del) in GNRHR, which segregated with delayed puberty in his family, mutations in the coding regions of FGFR1, GNRHR, TAC3, and TACR3 are not likely to underlie common constitutional delay of growth and puberty.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP870021.RAL6u9jjzazCgnH4tVrvhUStvDREoIz2i6DIbYE0YS4nE130_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/NP870021.RAL6u9jjzazCgnH4tVrvhUStvDREoIz2i6DIbYE0YS4nE130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/21292259 http://rdf.disgenet.org/resource/nanopub/NP870021.RAL6u9jjzazCgnH4tVrvhUStvDREoIz2i6DIbYE0YS4nE130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v4.0.0/void/befree-2016 http://rdf.disgenet.org/resource/nanopub/NP870021.RAL6u9jjzazCgnH4tVrvhUStvDREoIz2i6DIbYE0YS4nE130_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/NP870021.RAL6u9jjzazCgnH4tVrvhUStvDREoIz2i6DIbYE0YS4nE130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP870021.RAL6u9jjzazCgnH4tVrvhUStvDREoIz2i6DIbYE0YS4nE http://purl.org/dc/terms/created 2016-05-13T12:48:19+02:00 http://rdf.disgenet.org/resource/nanopub/NP870021.RAL6u9jjzazCgnH4tVrvhUStvDREoIz2i6DIbYE0YS4nE http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP870021.RAL6u9jjzazCgnH4tVrvhUStvDREoIz2i6DIbYE0YS4nE http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v4.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP870021.RAL6u9jjzazCgnH4tVrvhUStvDREoIz2i6DIbYE0YS4nE http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP870021.RAL6u9jjzazCgnH4tVrvhUStvDREoIz2i6DIbYE0YS4nE http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP870021.RAL6u9jjzazCgnH4tVrvhUStvDREoIz2i6DIbYE0YS4nE http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP870021.RAL6u9jjzazCgnH4tVrvhUStvDREoIz2i6DIbYE0YS4nE http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP870021.RAL6u9jjzazCgnH4tVrvhUStvDREoIz2i6DIbYE0YS4nE http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP870021.RAL6u9jjzazCgnH4tVrvhUStvDREoIz2i6DIbYE0YS4nE http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP870021.RAL6u9jjzazCgnH4tVrvhUStvDREoIz2i6DIbYE0YS4nE http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP870021.RAL6u9jjzazCgnH4tVrvhUStvDREoIz2i6DIbYE0YS4nE http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP870021.RAL6u9jjzazCgnH4tVrvhUStvDREoIz2i6DIbYE0YS4nE 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