http://rdf.disgenet.org/nanopublications.trig#NP727898.RAeDh7n8bFQcWDHVDzEXuLRfzWXjjsqh8rrmB9fVrJbIQ130_head http://rdf.disgenet.org/nanopublications.trig#NP727898.RAeDh7n8bFQcWDHVDzEXuLRfzWXjjsqh8rrmB9fVrJbIQ http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/nanopublications.trig#NP727898.RAeDh7n8bFQcWDHVDzEXuLRfzWXjjsqh8rrmB9fVrJbIQ130_assertion http://rdf.disgenet.org/nanopublications.trig#NP727898.RAeDh7n8bFQcWDHVDzEXuLRfzWXjjsqh8rrmB9fVrJbIQ http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/nanopublications.trig#NP727898.RAeDh7n8bFQcWDHVDzEXuLRfzWXjjsqh8rrmB9fVrJbIQ130_provenance http://rdf.disgenet.org/nanopublications.trig#NP727898.RAeDh7n8bFQcWDHVDzEXuLRfzWXjjsqh8rrmB9fVrJbIQ http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP727898.RAeDh7n8bFQcWDHVDzEXuLRfzWXjjsqh8rrmB9fVrJbIQ130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP727898.RAeDh7n8bFQcWDHVDzEXuLRfzWXjjsqh8rrmB9fVrJbIQ http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/nanopublications.trig#NP727898.RAeDh7n8bFQcWDHVDzEXuLRfzWXjjsqh8rrmB9fVrJbIQ130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/nanopublications.trig#NP727898.RAeDh7n8bFQcWDHVDzEXuLRfzWXjjsqh8rrmB9fVrJbIQ130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/nanopublications.trig#NP727898.RAeDh7n8bFQcWDHVDzEXuLRfzWXjjsqh8rrmB9fVrJbIQ130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP727898.RAeDh7n8bFQcWDHVDzEXuLRfzWXjjsqh8rrmB9fVrJbIQ130_assertion http://identifiers.org/ncbigene/2778 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#DGNe0d170d5ccec2c28eba8f76133ef7c6f http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/2778 http://rdf.disgenet.org/gene-disease-association.ttl#DGNe0d170d5ccec2c28eba8f76133ef7c6f http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C2940786 http://rdf.disgenet.org/gene-disease-association.ttl#DGNe0d170d5ccec2c28eba8f76133ef7c6f http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/nanopublications.trig#NP727898.RAeDh7n8bFQcWDHVDzEXuLRfzWXjjsqh8rrmB9fVrJbIQ130_provenance http://rdf.disgenet.org/nanopublications.trig#NP727898.RAeDh7n8bFQcWDHVDzEXuLRfzWXjjsqh8rrmB9fVrJbIQ130_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#NP727898.RAeDh7n8bFQcWDHVDzEXuLRfzWXjjsqh8rrmB9fVrJbIQ130_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#NP727898.RAeDh7n8bFQcWDHVDzEXuLRfzWXjjsqh8rrmB9fVrJbIQ130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/21274302 http://rdf.disgenet.org/nanopublications.trig#NP727898.RAeDh7n8bFQcWDHVDzEXuLRfzWXjjsqh8rrmB9fVrJbIQ130_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#NP727898.RAeDh7n8bFQcWDHVDzEXuLRfzWXjjsqh8rrmB9fVrJbIQ130_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#NP727898.RAeDh7n8bFQcWDHVDzEXuLRfzWXjjsqh8rrmB9fVrJbIQ130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP727898.RAeDh7n8bFQcWDHVDzEXuLRfzWXjjsqh8rrmB9fVrJbIQ http://purl.org/dc/terms/created 2014-10-02T12:39:22+02:00 http://rdf.disgenet.org/nanopublications.trig#NP727898.RAeDh7n8bFQcWDHVDzEXuLRfzWXjjsqh8rrmB9fVrJbIQ http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/nanopublications.trig#NP727898.RAeDh7n8bFQcWDHVDzEXuLRfzWXjjsqh8rrmB9fVrJbIQ http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v2.1.0/void.ttl#IBIGroup http://rdf.disgenet.org/nanopublications.trig#NP727898.RAeDh7n8bFQcWDHVDzEXuLRfzWXjjsqh8rrmB9fVrJbIQ http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/nanopublications.trig#NP727898.RAeDh7n8bFQcWDHVDzEXuLRfzWXjjsqh8rrmB9fVrJbIQ http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf http://rdf.disgenet.org/nanopublications.trig#NP727898.RAeDh7n8bFQcWDHVDzEXuLRfzWXjjsqh8rrmB9fVrJbIQ http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/nanopublications.trig#NP727898.RAeDh7n8bFQcWDHVDzEXuLRfzWXjjsqh8rrmB9fVrJbIQ http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/nanopublications.trig#NP727898.RAeDh7n8bFQcWDHVDzEXuLRfzWXjjsqh8rrmB9fVrJbIQ http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/nanopublications.trig#NP727898.RAeDh7n8bFQcWDHVDzEXuLRfzWXjjsqh8rrmB9fVrJbIQ http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP727898.RAeDh7n8bFQcWDHVDzEXuLRfzWXjjsqh8rrmB9fVrJbIQ http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/nanopublications.trig#NP727898.RAeDh7n8bFQcWDHVDzEXuLRfzWXjjsqh8rrmB9fVrJbIQ http://purl.org/pav/2.0/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP727898.RAeDh7n8bFQcWDHVDzEXuLRfzWXjjsqh8rrmB9fVrJbIQ 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