http://rdf.disgenet.org/resource/nanopub/NP943485.RA6uOkiyRoJA-uJ2DMjC_pXFpRtqonTLT2BhvAwUj1OJ8#head
http://rdf.disgenet.org/resource/nanopub/NP943485.RA6uOkiyRoJA-uJ2DMjC_pXFpRtqonTLT2BhvAwUj1OJ8
http://www.nanopub.org/nschema#hasAssertion
http://rdf.disgenet.org/resource/nanopub/NP943485.RA6uOkiyRoJA-uJ2DMjC_pXFpRtqonTLT2BhvAwUj1OJ8#assertion
http://rdf.disgenet.org/resource/nanopub/NP943485.RA6uOkiyRoJA-uJ2DMjC_pXFpRtqonTLT2BhvAwUj1OJ8
http://www.nanopub.org/nschema#hasProvenance
http://rdf.disgenet.org/resource/nanopub/NP943485.RA6uOkiyRoJA-uJ2DMjC_pXFpRtqonTLT2BhvAwUj1OJ8#provenance
http://rdf.disgenet.org/resource/nanopub/NP943485.RA6uOkiyRoJA-uJ2DMjC_pXFpRtqonTLT2BhvAwUj1OJ8
http://www.nanopub.org/nschema#hasPublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP943485.RA6uOkiyRoJA-uJ2DMjC_pXFpRtqonTLT2BhvAwUj1OJ8#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP943485.RA6uOkiyRoJA-uJ2DMjC_pXFpRtqonTLT2BhvAwUj1OJ8
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Nanopublication
http://rdf.disgenet.org/resource/nanopub/NP943485.RA6uOkiyRoJA-uJ2DMjC_pXFpRtqonTLT2BhvAwUj1OJ8#assertion
http://rdf.disgenet.org/resource/gda/DGN58b7ad424860b2a57b7f3a18cd8c3824
http://semanticscience.org/resource/SIO_000628
http://identifiers.org/ncbigene/6473
http://rdf.disgenet.org/resource/gda/DGN58b7ad424860b2a57b7f3a18cd8c3824
http://semanticscience.org/resource/SIO_000628
http://linkedlifedata.com/resource/umls/id/C0265309
http://rdf.disgenet.org/resource/gda/DGN58b7ad424860b2a57b7f3a18cd8c3824
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://semanticscience.org/resource/SIO_001122
http://rdf.disgenet.org/resource/nanopub/NP943485.RA6uOkiyRoJA-uJ2DMjC_pXFpRtqonTLT2BhvAwUj1OJ8#provenance
http://rdf.disgenet.org/resource/nanopub/NP943485.RA6uOkiyRoJA-uJ2DMjC_pXFpRtqonTLT2BhvAwUj1OJ8#assertion
http://purl.org/dc/terms/description
[In 14 of these 17 patients, this was the only potentially causative abnormality detected (13 had symptoms consistent with LWD and one had short stature only), but the other three 47.5?kb deletions were found in patients with an additional causative SHOX mutation (with symptoms of LWD rather than LMD).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
http://rdf.disgenet.org/resource/nanopub/NP943485.RA6uOkiyRoJA-uJ2DMjC_pXFpRtqonTLT2BhvAwUj1OJ8#assertion
http://purl.org/ontology/wi/core#evidence
http://rdf.disgenet.org/v5.0.0/void/source_evidence_literature
http://rdf.disgenet.org/resource/nanopub/NP943485.RA6uOkiyRoJA-uJ2DMjC_pXFpRtqonTLT2BhvAwUj1OJ8#assertion
http://semanticscience.org/resource/SIO_000772
http://identifiers.org/pubmed/23636926
http://rdf.disgenet.org/resource/nanopub/NP943485.RA6uOkiyRoJA-uJ2DMjC_pXFpRtqonTLT2BhvAwUj1OJ8#assertion
http://www.w3.org/ns/prov#wasDerivedFrom
http://rdf.disgenet.org/v5.0.0/void/BEFREE
http://rdf.disgenet.org/resource/nanopub/NP943485.RA6uOkiyRoJA-uJ2DMjC_pXFpRtqonTLT2BhvAwUj1OJ8#assertion
http://www.w3.org/ns/prov#wasGeneratedBy
http://purl.obolibrary.org/obo/ECO_0000203
http://rdf.disgenet.org/v5.0.0/void/BEFREE
http://purl.org/pav/importedOn
2017-02-19
http://rdf.disgenet.org/v5.0.0/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/v5.0.0/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/v5.0.0/void/source_evidence_literature
http://www.w3.org/2000/01/rdf-schema#label
DisGeNET evidence - LITERATURE
http://rdf.disgenet.org/resource/nanopub/NP943485.RA6uOkiyRoJA-uJ2DMjC_pXFpRtqonTLT2BhvAwUj1OJ8#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP943485.RA6uOkiyRoJA-uJ2DMjC_pXFpRtqonTLT2BhvAwUj1OJ8
http://purl.org/dc/terms/created
2017-10-17T13:16:12+02:00
http://rdf.disgenet.org/resource/nanopub/NP943485.RA6uOkiyRoJA-uJ2DMjC_pXFpRtqonTLT2BhvAwUj1OJ8
http://purl.org/dc/terms/rights
http://opendatacommons.org/licenses/odbl/1.0/
http://rdf.disgenet.org/resource/nanopub/NP943485.RA6uOkiyRoJA-uJ2DMjC_pXFpRtqonTLT2BhvAwUj1OJ8
http://purl.org/dc/terms/rightsHolder
http://rdf.disgenet.org/v5.0.0/void/IBIGroup
http://rdf.disgenet.org/resource/nanopub/NP943485.RA6uOkiyRoJA-uJ2DMjC_pXFpRtqonTLT2BhvAwUj1OJ8
http://purl.org/dc/terms/subject
http://semanticscience.org/resource/SIO_000983
http://rdf.disgenet.org/resource/nanopub/NP943485.RA6uOkiyRoJA-uJ2DMjC_pXFpRtqonTLT2BhvAwUj1OJ8
http://purl.org/net/provenance/ns#usedData
http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf
http://rdf.disgenet.org/resource/nanopub/NP943485.RA6uOkiyRoJA-uJ2DMjC_pXFpRtqonTLT2BhvAwUj1OJ8
http://purl.org/pav/authoredBy
http://orcid.org/0000-0001-5999-6269
http://rdf.disgenet.org/resource/nanopub/NP943485.RA6uOkiyRoJA-uJ2DMjC_pXFpRtqonTLT2BhvAwUj1OJ8
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-7534-7661
http://rdf.disgenet.org/resource/nanopub/NP943485.RA6uOkiyRoJA-uJ2DMjC_pXFpRtqonTLT2BhvAwUj1OJ8
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-9383-528X
http://rdf.disgenet.org/resource/nanopub/NP943485.RA6uOkiyRoJA-uJ2DMjC_pXFpRtqonTLT2BhvAwUj1OJ8
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP943485.RA6uOkiyRoJA-uJ2DMjC_pXFpRtqonTLT2BhvAwUj1OJ8
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-1244-7654
http://rdf.disgenet.org/resource/nanopub/NP943485.RA6uOkiyRoJA-uJ2DMjC_pXFpRtqonTLT2BhvAwUj1OJ8
http://purl.org/pav/createdBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP943485.RA6uOkiyRoJA-uJ2DMjC_pXFpRtqonTLT2BhvAwUj1OJ8
http://purl.org/pav/version
v5.0.0.0
http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf
http://purl.org/pav/version
v5.0.0