http://rdf.disgenet.org/resource/nanopub/NP1250783.RAe24KRfCru571bLBAep4BTY-L3_Jf2uJ4DyMGWR9IaS0130_head
http://rdf.disgenet.org/resource/nanopub/NP1250783.RAe24KRfCru571bLBAep4BTY-L3_Jf2uJ4DyMGWR9IaS0
http://www.nanopub.org/nschema#hasAssertion
http://rdf.disgenet.org/resource/nanopub/NP1250783.RAe24KRfCru571bLBAep4BTY-L3_Jf2uJ4DyMGWR9IaS0130_assertion
http://rdf.disgenet.org/resource/nanopub/NP1250783.RAe24KRfCru571bLBAep4BTY-L3_Jf2uJ4DyMGWR9IaS0
http://www.nanopub.org/nschema#hasProvenance
http://rdf.disgenet.org/resource/nanopub/NP1250783.RAe24KRfCru571bLBAep4BTY-L3_Jf2uJ4DyMGWR9IaS0130_provenance
http://rdf.disgenet.org/resource/nanopub/NP1250783.RAe24KRfCru571bLBAep4BTY-L3_Jf2uJ4DyMGWR9IaS0
http://www.nanopub.org/nschema#hasPublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP1250783.RAe24KRfCru571bLBAep4BTY-L3_Jf2uJ4DyMGWR9IaS0130_publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP1250783.RAe24KRfCru571bLBAep4BTY-L3_Jf2uJ4DyMGWR9IaS0
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Nanopublication
http://rdf.disgenet.org/resource/nanopub/NP1250783.RAe24KRfCru571bLBAep4BTY-L3_Jf2uJ4DyMGWR9IaS0130_assertion
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Assertion
http://rdf.disgenet.org/resource/nanopub/NP1250783.RAe24KRfCru571bLBAep4BTY-L3_Jf2uJ4DyMGWR9IaS0130_provenance
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Provenance
http://rdf.disgenet.org/resource/nanopub/NP1250783.RAe24KRfCru571bLBAep4BTY-L3_Jf2uJ4DyMGWR9IaS0130_publicationInfo
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#PublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP1250783.RAe24KRfCru571bLBAep4BTY-L3_Jf2uJ4DyMGWR9IaS0130_assertion
http://identifiers.org/ncbigene/6473
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/C0008626
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/DGN5f97cee83b5a36157771eac79bab699e
http://semanticscience.org/resource/SIO_000628
http://identifiers.org/ncbigene/6473
http://rdf.disgenet.org/resource/gda/DGN5f97cee83b5a36157771eac79bab699e
http://semanticscience.org/resource/SIO_000628
http://linkedlifedata.com/resource/umls/id/C0008626
http://rdf.disgenet.org/resource/gda/DGN5f97cee83b5a36157771eac79bab699e
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://semanticscience.org/resource/SIO_001121
http://rdf.disgenet.org/resource/nanopub/NP1250783.RAe24KRfCru571bLBAep4BTY-L3_Jf2uJ4DyMGWR9IaS0130_provenance
http://rdf.disgenet.org/resource/nanopub/NP1250783.RAe24KRfCru571bLBAep4BTY-L3_Jf2uJ4DyMGWR9IaS0130_assertion
http://purl.org/dc/terms/description
[The aim of the present study was to propose a feasible and practical molecular diagnostic tool for newborn screening by quantifying the gene dosage of the SHOX, VAMP7, XIST, UBA1, and SRY genes by quantitative polymerase chain reaction (qPCR) in individuals with a diagnosis of complete X monosomy, as well as those with TS variants, and then compare the results to controls without chromosomal abnormalities.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
http://rdf.disgenet.org/resource/nanopub/NP1250783.RAe24KRfCru571bLBAep4BTY-L3_Jf2uJ4DyMGWR9IaS0130_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/NP1250783.RAe24KRfCru571bLBAep4BTY-L3_Jf2uJ4DyMGWR9IaS0130_assertion
http://semanticscience.org/resource/SIO_000772
http://identifiers.org/pubmed/25535777
http://rdf.disgenet.org/resource/nanopub/NP1250783.RAe24KRfCru571bLBAep4BTY-L3_Jf2uJ4DyMGWR9IaS0130_assertion
http://www.w3.org/ns/prov#wasDerivedFrom
http://rdf.disgenet.org/v4.0.0/void/befree-2016
http://rdf.disgenet.org/resource/nanopub/NP1250783.RAe24KRfCru571bLBAep4BTY-L3_Jf2uJ4DyMGWR9IaS0130_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/NP1250783.RAe24KRfCru571bLBAep4BTY-L3_Jf2uJ4DyMGWR9IaS0130_publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP1250783.RAe24KRfCru571bLBAep4BTY-L3_Jf2uJ4DyMGWR9IaS0
http://purl.org/dc/terms/created
2016-05-13T12:51:13+02:00
http://rdf.disgenet.org/resource/nanopub/NP1250783.RAe24KRfCru571bLBAep4BTY-L3_Jf2uJ4DyMGWR9IaS0
http://purl.org/dc/terms/rights
http://opendatacommons.org/licenses/odbl/1.0/
http://rdf.disgenet.org/resource/nanopub/NP1250783.RAe24KRfCru571bLBAep4BTY-L3_Jf2uJ4DyMGWR9IaS0
http://purl.org/dc/terms/rightsHolder
http://rdf.disgenet.org/v4.0.0/void/IBIGroup
http://rdf.disgenet.org/resource/nanopub/NP1250783.RAe24KRfCru571bLBAep4BTY-L3_Jf2uJ4DyMGWR9IaS0
http://purl.org/dc/terms/subject
http://semanticscience.org/resource/SIO_000983
http://rdf.disgenet.org/resource/nanopub/NP1250783.RAe24KRfCru571bLBAep4BTY-L3_Jf2uJ4DyMGWR9IaS0
http://purl.org/net/provenance/ns#usedData
http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf
http://rdf.disgenet.org/resource/nanopub/NP1250783.RAe24KRfCru571bLBAep4BTY-L3_Jf2uJ4DyMGWR9IaS0
http://purl.org/pav/authoredBy
http://orcid.org/0000-0001-5999-6269
http://rdf.disgenet.org/resource/nanopub/NP1250783.RAe24KRfCru571bLBAep4BTY-L3_Jf2uJ4DyMGWR9IaS0
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-7534-7661
http://rdf.disgenet.org/resource/nanopub/NP1250783.RAe24KRfCru571bLBAep4BTY-L3_Jf2uJ4DyMGWR9IaS0
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-9383-528X
http://rdf.disgenet.org/resource/nanopub/NP1250783.RAe24KRfCru571bLBAep4BTY-L3_Jf2uJ4DyMGWR9IaS0
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP1250783.RAe24KRfCru571bLBAep4BTY-L3_Jf2uJ4DyMGWR9IaS0
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-1244-7654
http://rdf.disgenet.org/resource/nanopub/NP1250783.RAe24KRfCru571bLBAep4BTY-L3_Jf2uJ4DyMGWR9IaS0
http://purl.org/pav/createdBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP1250783.RAe24KRfCru571bLBAep4BTY-L3_Jf2uJ4DyMGWR9IaS0
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