http://rdf.disgenet.org/resource/nanopub/NP871255.RAQZ1P_DOf5vFsgs27W8D-fIVTK6yUcU9DwssWJFjEorY#head
http://rdf.disgenet.org/resource/nanopub/NP871255.RAQZ1P_DOf5vFsgs27W8D-fIVTK6yUcU9DwssWJFjEorY
http://www.nanopub.org/nschema#hasAssertion
http://rdf.disgenet.org/resource/nanopub/NP871255.RAQZ1P_DOf5vFsgs27W8D-fIVTK6yUcU9DwssWJFjEorY#assertion
http://rdf.disgenet.org/resource/nanopub/NP871255.RAQZ1P_DOf5vFsgs27W8D-fIVTK6yUcU9DwssWJFjEorY
http://www.nanopub.org/nschema#hasProvenance
http://rdf.disgenet.org/resource/nanopub/NP871255.RAQZ1P_DOf5vFsgs27W8D-fIVTK6yUcU9DwssWJFjEorY#provenance
http://rdf.disgenet.org/resource/nanopub/NP871255.RAQZ1P_DOf5vFsgs27W8D-fIVTK6yUcU9DwssWJFjEorY
http://www.nanopub.org/nschema#hasPublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP871255.RAQZ1P_DOf5vFsgs27W8D-fIVTK6yUcU9DwssWJFjEorY#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP871255.RAQZ1P_DOf5vFsgs27W8D-fIVTK6yUcU9DwssWJFjEorY
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Nanopublication
http://rdf.disgenet.org/resource/nanopub/NP871255.RAQZ1P_DOf5vFsgs27W8D-fIVTK6yUcU9DwssWJFjEorY#assertion
http://rdf.disgenet.org/resource/gda/DGN5ff57987d8464ef0f7588a41c8c3f078
http://semanticscience.org/resource/SIO_000628
http://identifiers.org/ncbigene/5727
http://rdf.disgenet.org/resource/gda/DGN5ff57987d8464ef0f7588a41c8c3f078
http://semanticscience.org/resource/SIO_000628
http://linkedlifedata.com/resource/umls/id/C0004779
http://rdf.disgenet.org/resource/gda/DGN5ff57987d8464ef0f7588a41c8c3f078
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://semanticscience.org/resource/SIO_001122
http://rdf.disgenet.org/resource/nanopub/NP871255.RAQZ1P_DOf5vFsgs27W8D-fIVTK6yUcU9DwssWJFjEorY#provenance
http://rdf.disgenet.org/resource/nanopub/NP871255.RAQZ1P_DOf5vFsgs27W8D-fIVTK6yUcU9DwssWJFjEorY#assertion
http://purl.org/dc/terms/description
[In order to examine the phenotypic variability in NBCCS and to highlight functionally important domains of the PTCH protein, we have now screened 71 unrelated NBCCS individuals for mutations in the PTCH exons.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
http://rdf.disgenet.org/resource/nanopub/NP871255.RAQZ1P_DOf5vFsgs27W8D-fIVTK6yUcU9DwssWJFjEorY#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/NP871255.RAQZ1P_DOf5vFsgs27W8D-fIVTK6yUcU9DwssWJFjEorY#assertion
http://semanticscience.org/resource/SIO_000772
http://identifiers.org/pubmed/8981943
http://rdf.disgenet.org/resource/nanopub/NP871255.RAQZ1P_DOf5vFsgs27W8D-fIVTK6yUcU9DwssWJFjEorY#assertion
http://www.w3.org/ns/prov#wasDerivedFrom
http://rdf.disgenet.org/v5.0.0/void/BEFREE
http://rdf.disgenet.org/resource/nanopub/NP871255.RAQZ1P_DOf5vFsgs27W8D-fIVTK6yUcU9DwssWJFjEorY#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/NP871255.RAQZ1P_DOf5vFsgs27W8D-fIVTK6yUcU9DwssWJFjEorY#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP871255.RAQZ1P_DOf5vFsgs27W8D-fIVTK6yUcU9DwssWJFjEorY
http://purl.org/dc/terms/created
2017-10-17T13:15:44+02:00
http://rdf.disgenet.org/resource/nanopub/NP871255.RAQZ1P_DOf5vFsgs27W8D-fIVTK6yUcU9DwssWJFjEorY
http://purl.org/dc/terms/rights
http://opendatacommons.org/licenses/odbl/1.0/
http://rdf.disgenet.org/resource/nanopub/NP871255.RAQZ1P_DOf5vFsgs27W8D-fIVTK6yUcU9DwssWJFjEorY
http://purl.org/dc/terms/rightsHolder
http://rdf.disgenet.org/v5.0.0/void/IBIGroup
http://rdf.disgenet.org/resource/nanopub/NP871255.RAQZ1P_DOf5vFsgs27W8D-fIVTK6yUcU9DwssWJFjEorY
http://purl.org/dc/terms/subject
http://semanticscience.org/resource/SIO_000983
http://rdf.disgenet.org/resource/nanopub/NP871255.RAQZ1P_DOf5vFsgs27W8D-fIVTK6yUcU9DwssWJFjEorY
http://purl.org/net/provenance/ns#usedData
http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf
http://rdf.disgenet.org/resource/nanopub/NP871255.RAQZ1P_DOf5vFsgs27W8D-fIVTK6yUcU9DwssWJFjEorY
http://purl.org/pav/authoredBy
http://orcid.org/0000-0001-5999-6269
http://rdf.disgenet.org/resource/nanopub/NP871255.RAQZ1P_DOf5vFsgs27W8D-fIVTK6yUcU9DwssWJFjEorY
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-7534-7661
http://rdf.disgenet.org/resource/nanopub/NP871255.RAQZ1P_DOf5vFsgs27W8D-fIVTK6yUcU9DwssWJFjEorY
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-9383-528X
http://rdf.disgenet.org/resource/nanopub/NP871255.RAQZ1P_DOf5vFsgs27W8D-fIVTK6yUcU9DwssWJFjEorY
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP871255.RAQZ1P_DOf5vFsgs27W8D-fIVTK6yUcU9DwssWJFjEorY
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-1244-7654
http://rdf.disgenet.org/resource/nanopub/NP871255.RAQZ1P_DOf5vFsgs27W8D-fIVTK6yUcU9DwssWJFjEorY
http://purl.org/pav/createdBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP871255.RAQZ1P_DOf5vFsgs27W8D-fIVTK6yUcU9DwssWJFjEorY
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