http://rdf.disgenet.org/nanopublications.trig#NP791727.RA3riM2YiYGJZCvHrttbX4V5_bnTYbqSyqz1q_OKwS4W8130_head http://rdf.disgenet.org/nanopublications.trig#NP791727.RA3riM2YiYGJZCvHrttbX4V5_bnTYbqSyqz1q_OKwS4W8 http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/nanopublications.trig#NP791727.RA3riM2YiYGJZCvHrttbX4V5_bnTYbqSyqz1q_OKwS4W8130_assertion http://rdf.disgenet.org/nanopublications.trig#NP791727.RA3riM2YiYGJZCvHrttbX4V5_bnTYbqSyqz1q_OKwS4W8 http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/nanopublications.trig#NP791727.RA3riM2YiYGJZCvHrttbX4V5_bnTYbqSyqz1q_OKwS4W8130_provenance http://rdf.disgenet.org/nanopublications.trig#NP791727.RA3riM2YiYGJZCvHrttbX4V5_bnTYbqSyqz1q_OKwS4W8 http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP791727.RA3riM2YiYGJZCvHrttbX4V5_bnTYbqSyqz1q_OKwS4W8130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP791727.RA3riM2YiYGJZCvHrttbX4V5_bnTYbqSyqz1q_OKwS4W8 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/nanopublications.trig#NP791727.RA3riM2YiYGJZCvHrttbX4V5_bnTYbqSyqz1q_OKwS4W8130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/nanopublications.trig#NP791727.RA3riM2YiYGJZCvHrttbX4V5_bnTYbqSyqz1q_OKwS4W8130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/nanopublications.trig#NP791727.RA3riM2YiYGJZCvHrttbX4V5_bnTYbqSyqz1q_OKwS4W8130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP791727.RA3riM2YiYGJZCvHrttbX4V5_bnTYbqSyqz1q_OKwS4W8130_assertion http://identifiers.org/ncbigene/7054 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/C0013421 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#DGN81f116f3173da98c22ba1c8019491078 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/7054 http://rdf.disgenet.org/gene-disease-association.ttl#DGN81f116f3173da98c22ba1c8019491078 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0013421 http://rdf.disgenet.org/gene-disease-association.ttl#DGN81f116f3173da98c22ba1c8019491078 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/nanopublications.trig#NP791727.RA3riM2YiYGJZCvHrttbX4V5_bnTYbqSyqz1q_OKwS4W8130_provenance http://rdf.disgenet.org/nanopublications.trig#NP791727.RA3riM2YiYGJZCvHrttbX4V5_bnTYbqSyqz1q_OKwS4W8130_assertion http://purl.org/dc/terms/description [Neurological findings including severe psychomotor retardation, quadruspasticity and microcephaly accompanied with marked dystonia, excessive sweating in the first patient was compatible with the diagnosis of tyrosine hydroxylase (TH) deficiency (type B) and subsequent molecular analysis revealed two novel heterozygous mutations c.636A>C and c.1124G>C in the TH gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/nanopublications.trig#NP791727.RA3riM2YiYGJZCvHrttbX4V5_bnTYbqSyqz1q_OKwS4W8130_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#NP791727.RA3riM2YiYGJZCvHrttbX4V5_bnTYbqSyqz1q_OKwS4W8130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/22691284 http://rdf.disgenet.org/nanopublications.trig#NP791727.RA3riM2YiYGJZCvHrttbX4V5_bnTYbqSyqz1q_OKwS4W8130_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#NP791727.RA3riM2YiYGJZCvHrttbX4V5_bnTYbqSyqz1q_OKwS4W8130_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#NP791727.RA3riM2YiYGJZCvHrttbX4V5_bnTYbqSyqz1q_OKwS4W8130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP791727.RA3riM2YiYGJZCvHrttbX4V5_bnTYbqSyqz1q_OKwS4W8 http://purl.org/dc/terms/created 2014-10-02T12:40:06+02:00 http://rdf.disgenet.org/nanopublications.trig#NP791727.RA3riM2YiYGJZCvHrttbX4V5_bnTYbqSyqz1q_OKwS4W8 http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/nanopublications.trig#NP791727.RA3riM2YiYGJZCvHrttbX4V5_bnTYbqSyqz1q_OKwS4W8 http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v2.1.0/void.ttl#IBIGroup http://rdf.disgenet.org/nanopublications.trig#NP791727.RA3riM2YiYGJZCvHrttbX4V5_bnTYbqSyqz1q_OKwS4W8 http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/nanopublications.trig#NP791727.RA3riM2YiYGJZCvHrttbX4V5_bnTYbqSyqz1q_OKwS4W8 http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf http://rdf.disgenet.org/nanopublications.trig#NP791727.RA3riM2YiYGJZCvHrttbX4V5_bnTYbqSyqz1q_OKwS4W8 http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/nanopublications.trig#NP791727.RA3riM2YiYGJZCvHrttbX4V5_bnTYbqSyqz1q_OKwS4W8 http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/nanopublications.trig#NP791727.RA3riM2YiYGJZCvHrttbX4V5_bnTYbqSyqz1q_OKwS4W8 http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/nanopublications.trig#NP791727.RA3riM2YiYGJZCvHrttbX4V5_bnTYbqSyqz1q_OKwS4W8 http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP791727.RA3riM2YiYGJZCvHrttbX4V5_bnTYbqSyqz1q_OKwS4W8 http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/nanopublications.trig#NP791727.RA3riM2YiYGJZCvHrttbX4V5_bnTYbqSyqz1q_OKwS4W8 http://purl.org/pav/2.0/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP791727.RA3riM2YiYGJZCvHrttbX4V5_bnTYbqSyqz1q_OKwS4W8 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