http://rdf.disgenet.org/resource/nanopub/NP665001.RAFBjhcfHGvYTFWqwEhB8mdNmE9ENPQDi5wg8Ibq8aIhQ130_head
http://rdf.disgenet.org/resource/nanopub/NP665001.RAFBjhcfHGvYTFWqwEhB8mdNmE9ENPQDi5wg8Ibq8aIhQ
http://www.nanopub.org/nschema#hasAssertion
http://rdf.disgenet.org/resource/nanopub/NP665001.RAFBjhcfHGvYTFWqwEhB8mdNmE9ENPQDi5wg8Ibq8aIhQ130_assertion
http://rdf.disgenet.org/resource/nanopub/NP665001.RAFBjhcfHGvYTFWqwEhB8mdNmE9ENPQDi5wg8Ibq8aIhQ
http://www.nanopub.org/nschema#hasProvenance
http://rdf.disgenet.org/resource/nanopub/NP665001.RAFBjhcfHGvYTFWqwEhB8mdNmE9ENPQDi5wg8Ibq8aIhQ130_provenance
http://rdf.disgenet.org/resource/nanopub/NP665001.RAFBjhcfHGvYTFWqwEhB8mdNmE9ENPQDi5wg8Ibq8aIhQ
http://www.nanopub.org/nschema#hasPublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP665001.RAFBjhcfHGvYTFWqwEhB8mdNmE9ENPQDi5wg8Ibq8aIhQ130_publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP665001.RAFBjhcfHGvYTFWqwEhB8mdNmE9ENPQDi5wg8Ibq8aIhQ
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Nanopublication
http://rdf.disgenet.org/resource/nanopub/NP665001.RAFBjhcfHGvYTFWqwEhB8mdNmE9ENPQDi5wg8Ibq8aIhQ130_assertion
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Assertion
http://rdf.disgenet.org/resource/nanopub/NP665001.RAFBjhcfHGvYTFWqwEhB8mdNmE9ENPQDi5wg8Ibq8aIhQ130_provenance
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Provenance
http://rdf.disgenet.org/resource/nanopub/NP665001.RAFBjhcfHGvYTFWqwEhB8mdNmE9ENPQDi5wg8Ibq8aIhQ130_publicationInfo
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#PublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP665001.RAFBjhcfHGvYTFWqwEhB8mdNmE9ENPQDi5wg8Ibq8aIhQ130_assertion
http://identifiers.org/ncbigene/5899
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/C2699510
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/DGNe892ae070d105de9c9632d0a9623b6ce
http://semanticscience.org/resource/SIO_000628
http://identifiers.org/ncbigene/5899
http://rdf.disgenet.org/resource/gda/DGNe892ae070d105de9c9632d0a9623b6ce
http://semanticscience.org/resource/SIO_000628
http://linkedlifedata.com/resource/umls/id/C2699510
http://rdf.disgenet.org/resource/gda/DGNe892ae070d105de9c9632d0a9623b6ce
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://semanticscience.org/resource/SIO_001121
http://rdf.disgenet.org/resource/nanopub/NP665001.RAFBjhcfHGvYTFWqwEhB8mdNmE9ENPQDi5wg8Ibq8aIhQ130_provenance
http://rdf.disgenet.org/resource/nanopub/NP665001.RAFBjhcfHGvYTFWqwEhB8mdNmE9ENPQDi5wg8Ibq8aIhQ130_assertion
http://purl.org/dc/terms/description
[To investigate whether mutation of a gene in proximity to the chromosome 2 breakpoint underlies the SHFLD, we sought independent evidence of mutations in GLI2, INHBB and two other genes (RALB and FLJ14816) in 44 unrelated patients with SHFM, SHFLD or isolated long bone deficiency.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
http://rdf.disgenet.org/resource/nanopub/NP665001.RAFBjhcfHGvYTFWqwEhB8mdNmE9ENPQDi5wg8Ibq8aIhQ130_assertion
http://purl.org/ontology/wi/core#evidence
http://rdf.disgenet.org/v3.0.0/void/source_evidence_literature
http://rdf.disgenet.org/resource/nanopub/NP665001.RAFBjhcfHGvYTFWqwEhB8mdNmE9ENPQDi5wg8Ibq8aIhQ130_assertion
http://semanticscience.org/resource/SIO_000772
http://identifiers.org/pubmed/17569090
http://rdf.disgenet.org/resource/nanopub/NP665001.RAFBjhcfHGvYTFWqwEhB8mdNmE9ENPQDi5wg8Ibq8aIhQ130_assertion
http://www.w3.org/ns/prov#wasDerivedFrom
http://rdf.disgenet.org/v3.0.0/void/befree-20150227
http://rdf.disgenet.org/resource/nanopub/NP665001.RAFBjhcfHGvYTFWqwEhB8mdNmE9ENPQDi5wg8Ibq8aIhQ130_assertion
http://www.w3.org/ns/prov#wasGeneratedBy
http://purl.obolibrary.org/obo/ECO_0000203
http://rdf.disgenet.org/v3.0.0/void/befree-20150227
http://purl.org/pav/importedOn
2015-02-27
http://rdf.disgenet.org/v3.0.0/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/v3.0.0/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/v3.0.0/void/source_evidence_literature
http://www.w3.org/2000/01/rdf-schema#label
DisGeNET evidence - LITERATURE
http://rdf.disgenet.org/resource/nanopub/NP665001.RAFBjhcfHGvYTFWqwEhB8mdNmE9ENPQDi5wg8Ibq8aIhQ130_publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP665001.RAFBjhcfHGvYTFWqwEhB8mdNmE9ENPQDi5wg8Ibq8aIhQ
http://purl.org/dc/terms/created
2015-08-25T14:44:19+02:00
http://rdf.disgenet.org/resource/nanopub/NP665001.RAFBjhcfHGvYTFWqwEhB8mdNmE9ENPQDi5wg8Ibq8aIhQ
http://purl.org/dc/terms/rights
http://opendatacommons.org/licenses/odbl/1.0/
http://rdf.disgenet.org/resource/nanopub/NP665001.RAFBjhcfHGvYTFWqwEhB8mdNmE9ENPQDi5wg8Ibq8aIhQ
http://purl.org/dc/terms/rightsHolder
http://rdf.disgenet.org/v3.0.0/void/IBIGroup
http://rdf.disgenet.org/resource/nanopub/NP665001.RAFBjhcfHGvYTFWqwEhB8mdNmE9ENPQDi5wg8Ibq8aIhQ
http://purl.org/dc/terms/subject
http://semanticscience.org/resource/SIO_000983
http://rdf.disgenet.org/resource/nanopub/NP665001.RAFBjhcfHGvYTFWqwEhB8mdNmE9ENPQDi5wg8Ibq8aIhQ
http://purl.org/net/provenance/ns#usedData
http://rdf.disgenet.org/v3.0.0/void/disgenetv3.0rdf
http://rdf.disgenet.org/resource/nanopub/NP665001.RAFBjhcfHGvYTFWqwEhB8mdNmE9ENPQDi5wg8Ibq8aIhQ
http://purl.org/pav/authoredBy
http://orcid.org/0000-0001-5999-6269
http://rdf.disgenet.org/resource/nanopub/NP665001.RAFBjhcfHGvYTFWqwEhB8mdNmE9ENPQDi5wg8Ibq8aIhQ
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-7534-7661
http://rdf.disgenet.org/resource/nanopub/NP665001.RAFBjhcfHGvYTFWqwEhB8mdNmE9ENPQDi5wg8Ibq8aIhQ
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-9383-528X
http://rdf.disgenet.org/resource/nanopub/NP665001.RAFBjhcfHGvYTFWqwEhB8mdNmE9ENPQDi5wg8Ibq8aIhQ
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP665001.RAFBjhcfHGvYTFWqwEhB8mdNmE9ENPQDi5wg8Ibq8aIhQ
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-1244-7654
http://rdf.disgenet.org/resource/nanopub/NP665001.RAFBjhcfHGvYTFWqwEhB8mdNmE9ENPQDi5wg8Ibq8aIhQ
http://purl.org/pav/createdBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP665001.RAFBjhcfHGvYTFWqwEhB8mdNmE9ENPQDi5wg8Ibq8aIhQ
http://purl.org/pav/version
v3.0.0.0
http://rdf.disgenet.org/v3.0.0/void/disgenetv3.0rdf
http://purl.org/pav/version
v3.0.0