http://rdf.disgenet.org/nanopublications.trig#NP477483.RADwX6zrzFgdXMBpPOZ3t4MerlCA7q-LYPyCei-je13T4130_head http://rdf.disgenet.org/nanopublications.trig#NP477483.RADwX6zrzFgdXMBpPOZ3t4MerlCA7q-LYPyCei-je13T4 http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/nanopublications.trig#NP477483.RADwX6zrzFgdXMBpPOZ3t4MerlCA7q-LYPyCei-je13T4130_assertion http://rdf.disgenet.org/nanopublications.trig#NP477483.RADwX6zrzFgdXMBpPOZ3t4MerlCA7q-LYPyCei-je13T4 http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/nanopublications.trig#NP477483.RADwX6zrzFgdXMBpPOZ3t4MerlCA7q-LYPyCei-je13T4130_provenance http://rdf.disgenet.org/nanopublications.trig#NP477483.RADwX6zrzFgdXMBpPOZ3t4MerlCA7q-LYPyCei-je13T4 http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP477483.RADwX6zrzFgdXMBpPOZ3t4MerlCA7q-LYPyCei-je13T4130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP477483.RADwX6zrzFgdXMBpPOZ3t4MerlCA7q-LYPyCei-je13T4 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/nanopublications.trig#NP477483.RADwX6zrzFgdXMBpPOZ3t4MerlCA7q-LYPyCei-je13T4130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/nanopublications.trig#NP477483.RADwX6zrzFgdXMBpPOZ3t4MerlCA7q-LYPyCei-je13T4130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/nanopublications.trig#NP477483.RADwX6zrzFgdXMBpPOZ3t4MerlCA7q-LYPyCei-je13T4130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP477483.RADwX6zrzFgdXMBpPOZ3t4MerlCA7q-LYPyCei-je13T4130_assertion http://identifiers.org/ncbigene/5741 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/C2940786 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/gene-disease-association.ttl#DGN43e5a3b37df9ac7f38108a9b5ffa4238 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/5741 http://rdf.disgenet.org/gene-disease-association.ttl#DGN43e5a3b37df9ac7f38108a9b5ffa4238 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C2940786 http://rdf.disgenet.org/gene-disease-association.ttl#DGN43e5a3b37df9ac7f38108a9b5ffa4238 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/nanopublications.trig#NP477483.RADwX6zrzFgdXMBpPOZ3t4MerlCA7q-LYPyCei-je13T4130_provenance http://rdf.disgenet.org/nanopublications.trig#NP477483.RADwX6zrzFgdXMBpPOZ3t4MerlCA7q-LYPyCei-je13T4130_assertion http://purl.org/dc/terms/description [This mutation was also found in the mother of this patient who was also noted to have short stature, obesity, brachydactyly and non progressive osteoma cutis, but no hormone resistance.We report a novel heterozygous mutation causing PHP1A with PTH and TSH resistance and AHO which has not been described previously.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/nanopublications.trig#NP477483.RADwX6zrzFgdXMBpPOZ3t4MerlCA7q-LYPyCei-je13T4130_assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v2.1.0/void.ttl#source_evidence_literature http://rdf.disgenet.org/nanopublications.trig#NP477483.RADwX6zrzFgdXMBpPOZ3t4MerlCA7q-LYPyCei-je13T4130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/21274302 http://rdf.disgenet.org/nanopublications.trig#NP477483.RADwX6zrzFgdXMBpPOZ3t4MerlCA7q-LYPyCei-je13T4130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v2.1.0/void.ttl#befree-20140225 http://rdf.disgenet.org/nanopublications.trig#NP477483.RADwX6zrzFgdXMBpPOZ3t4MerlCA7q-LYPyCei-je13T4130_assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/eco.owl#ECO_0000203 http://rdf.disgenet.org/v2.1.0/void.ttl#befree-20140225 http://purl.org/pav/2.0/importedOn 2014-02-25 http://rdf.disgenet.org/v2.1.0/void.ttl#source_evidence_literature http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://purl.obolibrary.org/obo/eco.owl#ECO_0000212 http://rdf.disgenet.org/v2.1.0/void.ttl#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/v2.1.0/void.ttl#source_evidence_literature http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - LITERATURE http://rdf.disgenet.org/nanopublications.trig#NP477483.RADwX6zrzFgdXMBpPOZ3t4MerlCA7q-LYPyCei-je13T4130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP477483.RADwX6zrzFgdXMBpPOZ3t4MerlCA7q-LYPyCei-je13T4 http://purl.org/dc/terms/created 2014-10-02T12:36:46+02:00 http://rdf.disgenet.org/nanopublications.trig#NP477483.RADwX6zrzFgdXMBpPOZ3t4MerlCA7q-LYPyCei-je13T4 http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/nanopublications.trig#NP477483.RADwX6zrzFgdXMBpPOZ3t4MerlCA7q-LYPyCei-je13T4 http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v2.1.0/void.ttl#IBIGroup http://rdf.disgenet.org/nanopublications.trig#NP477483.RADwX6zrzFgdXMBpPOZ3t4MerlCA7q-LYPyCei-je13T4 http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/nanopublications.trig#NP477483.RADwX6zrzFgdXMBpPOZ3t4MerlCA7q-LYPyCei-je13T4 http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf http://rdf.disgenet.org/nanopublications.trig#NP477483.RADwX6zrzFgdXMBpPOZ3t4MerlCA7q-LYPyCei-je13T4 http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/nanopublications.trig#NP477483.RADwX6zrzFgdXMBpPOZ3t4MerlCA7q-LYPyCei-je13T4 http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/nanopublications.trig#NP477483.RADwX6zrzFgdXMBpPOZ3t4MerlCA7q-LYPyCei-je13T4 http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/nanopublications.trig#NP477483.RADwX6zrzFgdXMBpPOZ3t4MerlCA7q-LYPyCei-je13T4 http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP477483.RADwX6zrzFgdXMBpPOZ3t4MerlCA7q-LYPyCei-je13T4 http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/nanopublications.trig#NP477483.RADwX6zrzFgdXMBpPOZ3t4MerlCA7q-LYPyCei-je13T4 http://purl.org/pav/2.0/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP477483.RADwX6zrzFgdXMBpPOZ3t4MerlCA7q-LYPyCei-je13T4 http://purl.org/pav/2.0/version v2.1.0.0 http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf http://purl.org/pav/2.0/version v2.1.0