http://rdf.disgenet.org/nanopublications.trig#NP601923.RAr8PfDucsXSe83UCdK0o8rgnDC1mxYhgtcE-37-lDq7I130_head
http://rdf.disgenet.org/nanopublications.trig#NP601923.RAr8PfDucsXSe83UCdK0o8rgnDC1mxYhgtcE-37-lDq7I
http://www.nanopub.org/nschema#hasAssertion
http://rdf.disgenet.org/nanopublications.trig#NP601923.RAr8PfDucsXSe83UCdK0o8rgnDC1mxYhgtcE-37-lDq7I130_assertion
http://rdf.disgenet.org/nanopublications.trig#NP601923.RAr8PfDucsXSe83UCdK0o8rgnDC1mxYhgtcE-37-lDq7I
http://www.nanopub.org/nschema#hasProvenance
http://rdf.disgenet.org/nanopublications.trig#NP601923.RAr8PfDucsXSe83UCdK0o8rgnDC1mxYhgtcE-37-lDq7I130_provenance
http://rdf.disgenet.org/nanopublications.trig#NP601923.RAr8PfDucsXSe83UCdK0o8rgnDC1mxYhgtcE-37-lDq7I
http://www.nanopub.org/nschema#hasPublicationInfo
http://rdf.disgenet.org/nanopublications.trig#NP601923.RAr8PfDucsXSe83UCdK0o8rgnDC1mxYhgtcE-37-lDq7I130_publicationInfo
http://rdf.disgenet.org/nanopublications.trig#NP601923.RAr8PfDucsXSe83UCdK0o8rgnDC1mxYhgtcE-37-lDq7I
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Nanopublication
http://rdf.disgenet.org/nanopublications.trig#NP601923.RAr8PfDucsXSe83UCdK0o8rgnDC1mxYhgtcE-37-lDq7I130_assertion
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Assertion
http://rdf.disgenet.org/nanopublications.trig#NP601923.RAr8PfDucsXSe83UCdK0o8rgnDC1mxYhgtcE-37-lDq7I130_provenance
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Provenance
http://rdf.disgenet.org/nanopublications.trig#NP601923.RAr8PfDucsXSe83UCdK0o8rgnDC1mxYhgtcE-37-lDq7I130_publicationInfo
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#PublicationInfo
http://rdf.disgenet.org/nanopublications.trig#NP601923.RAr8PfDucsXSe83UCdK0o8rgnDC1mxYhgtcE-37-lDq7I130_assertion
http://identifiers.org/ncbigene/6469
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/C0020255
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#DGN1c863339edec8e07aa66832945330945
http://semanticscience.org/resource/SIO_000628
http://identifiers.org/ncbigene/6469
http://rdf.disgenet.org/gene-disease-association.ttl#DGN1c863339edec8e07aa66832945330945
http://semanticscience.org/resource/SIO_000628
http://linkedlifedata.com/resource/umls/id/C0020255
http://rdf.disgenet.org/gene-disease-association.ttl#DGN1c863339edec8e07aa66832945330945
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://semanticscience.org/resource/SIO_001121
http://rdf.disgenet.org/nanopublications.trig#NP601923.RAr8PfDucsXSe83UCdK0o8rgnDC1mxYhgtcE-37-lDq7I130_provenance
http://rdf.disgenet.org/nanopublications.trig#NP601923.RAr8PfDucsXSe83UCdK0o8rgnDC1mxYhgtcE-37-lDq7I130_assertion
http://purl.org/dc/terms/description
[Strikingly, ShhN/+ mutants displayed a spectrum of phenotypic features such as failure of anterior cerebral hemisphere to divide, hydrocephalus and cleft palate which have been observed in a human patient with milder HPE predicted to produce SHHN protein due to a truncation mutation in one SHH allele.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
http://rdf.disgenet.org/nanopublications.trig#NP601923.RAr8PfDucsXSe83UCdK0o8rgnDC1mxYhgtcE-37-lDq7I130_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#NP601923.RAr8PfDucsXSe83UCdK0o8rgnDC1mxYhgtcE-37-lDq7I130_assertion
http://semanticscience.org/resource/SIO_000772
http://identifiers.org/pubmed/17468181
http://rdf.disgenet.org/nanopublications.trig#NP601923.RAr8PfDucsXSe83UCdK0o8rgnDC1mxYhgtcE-37-lDq7I130_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#NP601923.RAr8PfDucsXSe83UCdK0o8rgnDC1mxYhgtcE-37-lDq7I130_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#NP601923.RAr8PfDucsXSe83UCdK0o8rgnDC1mxYhgtcE-37-lDq7I130_publicationInfo
http://rdf.disgenet.org/nanopublications.trig#NP601923.RAr8PfDucsXSe83UCdK0o8rgnDC1mxYhgtcE-37-lDq7I
http://purl.org/dc/terms/created
2014-10-02T12:38:01+02:00
http://rdf.disgenet.org/nanopublications.trig#NP601923.RAr8PfDucsXSe83UCdK0o8rgnDC1mxYhgtcE-37-lDq7I
http://purl.org/dc/terms/rights
http://opendatacommons.org/licenses/odbl/1.0/
http://rdf.disgenet.org/nanopublications.trig#NP601923.RAr8PfDucsXSe83UCdK0o8rgnDC1mxYhgtcE-37-lDq7I
http://purl.org/dc/terms/rightsHolder
http://rdf.disgenet.org/v2.1.0/void.ttl#IBIGroup
http://rdf.disgenet.org/nanopublications.trig#NP601923.RAr8PfDucsXSe83UCdK0o8rgnDC1mxYhgtcE-37-lDq7I
http://purl.org/dc/terms/subject
http://semanticscience.org/resource/SIO_000983
http://rdf.disgenet.org/nanopublications.trig#NP601923.RAr8PfDucsXSe83UCdK0o8rgnDC1mxYhgtcE-37-lDq7I
http://purl.org/net/provenance/ns#usedData
http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf
http://rdf.disgenet.org/nanopublications.trig#NP601923.RAr8PfDucsXSe83UCdK0o8rgnDC1mxYhgtcE-37-lDq7I
http://purl.org/pav/2.0/authoredBy
http://orcid.org/0000-0001-5999-6269
http://rdf.disgenet.org/nanopublications.trig#NP601923.RAr8PfDucsXSe83UCdK0o8rgnDC1mxYhgtcE-37-lDq7I
http://purl.org/pav/2.0/authoredBy
http://orcid.org/0000-0002-7534-7661
http://rdf.disgenet.org/nanopublications.trig#NP601923.RAr8PfDucsXSe83UCdK0o8rgnDC1mxYhgtcE-37-lDq7I
http://purl.org/pav/2.0/authoredBy
http://orcid.org/0000-0002-9383-528X
http://rdf.disgenet.org/nanopublications.trig#NP601923.RAr8PfDucsXSe83UCdK0o8rgnDC1mxYhgtcE-37-lDq7I
http://purl.org/pav/2.0/authoredBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/nanopublications.trig#NP601923.RAr8PfDucsXSe83UCdK0o8rgnDC1mxYhgtcE-37-lDq7I
http://purl.org/pav/2.0/authoredBy
http://orcid.org/0000-0003-1244-7654
http://rdf.disgenet.org/nanopublications.trig#NP601923.RAr8PfDucsXSe83UCdK0o8rgnDC1mxYhgtcE-37-lDq7I
http://purl.org/pav/2.0/createdBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/nanopublications.trig#NP601923.RAr8PfDucsXSe83UCdK0o8rgnDC1mxYhgtcE-37-lDq7I
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