http://rdf.disgenet.org/resource/nanopub/NP1342242.RAtiTwZcH_rVqLv_tj0wJV_AUxIyXmLctOCYtEEfEXM-Y130_head http://rdf.disgenet.org/resource/nanopub/NP1342242.RAtiTwZcH_rVqLv_tj0wJV_AUxIyXmLctOCYtEEfEXM-Y http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP1342242.RAtiTwZcH_rVqLv_tj0wJV_AUxIyXmLctOCYtEEfEXM-Y130_assertion http://rdf.disgenet.org/resource/nanopub/NP1342242.RAtiTwZcH_rVqLv_tj0wJV_AUxIyXmLctOCYtEEfEXM-Y http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP1342242.RAtiTwZcH_rVqLv_tj0wJV_AUxIyXmLctOCYtEEfEXM-Y130_provenance http://rdf.disgenet.org/resource/nanopub/NP1342242.RAtiTwZcH_rVqLv_tj0wJV_AUxIyXmLctOCYtEEfEXM-Y http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP1342242.RAtiTwZcH_rVqLv_tj0wJV_AUxIyXmLctOCYtEEfEXM-Y130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1342242.RAtiTwZcH_rVqLv_tj0wJV_AUxIyXmLctOCYtEEfEXM-Y http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP1342242.RAtiTwZcH_rVqLv_tj0wJV_AUxIyXmLctOCYtEEfEXM-Y130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP1342242.RAtiTwZcH_rVqLv_tj0wJV_AUxIyXmLctOCYtEEfEXM-Y130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP1342242.RAtiTwZcH_rVqLv_tj0wJV_AUxIyXmLctOCYtEEfEXM-Y130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP1342242.RAtiTwZcH_rVqLv_tj0wJV_AUxIyXmLctOCYtEEfEXM-Y130_assertion http://identifiers.org/ncbigene/2688 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/DGN3db2cd08ff2ee874ba35fd44fd490465 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/2688 http://rdf.disgenet.org/resource/gda/DGN3db2cd08ff2ee874ba35fd44fd490465 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0271568 http://rdf.disgenet.org/resource/gda/DGN3db2cd08ff2ee874ba35fd44fd490465 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP1342242.RAtiTwZcH_rVqLv_tj0wJV_AUxIyXmLctOCYtEEfEXM-Y130_provenance http://rdf.disgenet.org/resource/nanopub/NP1342242.RAtiTwZcH_rVqLv_tj0wJV_AUxIyXmLctOCYtEEfEXM-Y130_assertion http://purl.org/dc/terms/description [These results clearly demonstrate that this point mutation (patients with Laron syndrome) does not modify the synthesis or the intracellular pathway of receptor proteins, but rather abolishes ability of the receptor or BP to bind GH and is thus responsible for the extreme GH resistance in these patients.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP1342242.RAtiTwZcH_rVqLv_tj0wJV_AUxIyXmLctOCYtEEfEXM-Y130_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/NP1342242.RAtiTwZcH_rVqLv_tj0wJV_AUxIyXmLctOCYtEEfEXM-Y130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/8450064 http://rdf.disgenet.org/resource/nanopub/NP1342242.RAtiTwZcH_rVqLv_tj0wJV_AUxIyXmLctOCYtEEfEXM-Y130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v4.0.0/void/befree-2016 http://rdf.disgenet.org/resource/nanopub/NP1342242.RAtiTwZcH_rVqLv_tj0wJV_AUxIyXmLctOCYtEEfEXM-Y130_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/NP1342242.RAtiTwZcH_rVqLv_tj0wJV_AUxIyXmLctOCYtEEfEXM-Y130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1342242.RAtiTwZcH_rVqLv_tj0wJV_AUxIyXmLctOCYtEEfEXM-Y http://purl.org/dc/terms/created 2016-05-13T12:51:54+02:00 http://rdf.disgenet.org/resource/nanopub/NP1342242.RAtiTwZcH_rVqLv_tj0wJV_AUxIyXmLctOCYtEEfEXM-Y http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP1342242.RAtiTwZcH_rVqLv_tj0wJV_AUxIyXmLctOCYtEEfEXM-Y http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v4.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP1342242.RAtiTwZcH_rVqLv_tj0wJV_AUxIyXmLctOCYtEEfEXM-Y http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP1342242.RAtiTwZcH_rVqLv_tj0wJV_AUxIyXmLctOCYtEEfEXM-Y http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP1342242.RAtiTwZcH_rVqLv_tj0wJV_AUxIyXmLctOCYtEEfEXM-Y http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP1342242.RAtiTwZcH_rVqLv_tj0wJV_AUxIyXmLctOCYtEEfEXM-Y http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP1342242.RAtiTwZcH_rVqLv_tj0wJV_AUxIyXmLctOCYtEEfEXM-Y http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP1342242.RAtiTwZcH_rVqLv_tj0wJV_AUxIyXmLctOCYtEEfEXM-Y http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1342242.RAtiTwZcH_rVqLv_tj0wJV_AUxIyXmLctOCYtEEfEXM-Y http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP1342242.RAtiTwZcH_rVqLv_tj0wJV_AUxIyXmLctOCYtEEfEXM-Y http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1342242.RAtiTwZcH_rVqLv_tj0wJV_AUxIyXmLctOCYtEEfEXM-Y 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