http://rdf.disgenet.org/resource/nanopub/NP871362.RAtuoQS30q4ThORCuBfL4ha3d9SJqZafY4Pb8A733sW1Y#head
http://rdf.disgenet.org/resource/nanopub/NP871362.RAtuoQS30q4ThORCuBfL4ha3d9SJqZafY4Pb8A733sW1Y
http://www.nanopub.org/nschema#hasAssertion
http://rdf.disgenet.org/resource/nanopub/NP871362.RAtuoQS30q4ThORCuBfL4ha3d9SJqZafY4Pb8A733sW1Y#assertion
http://rdf.disgenet.org/resource/nanopub/NP871362.RAtuoQS30q4ThORCuBfL4ha3d9SJqZafY4Pb8A733sW1Y
http://www.nanopub.org/nschema#hasProvenance
http://rdf.disgenet.org/resource/nanopub/NP871362.RAtuoQS30q4ThORCuBfL4ha3d9SJqZafY4Pb8A733sW1Y#provenance
http://rdf.disgenet.org/resource/nanopub/NP871362.RAtuoQS30q4ThORCuBfL4ha3d9SJqZafY4Pb8A733sW1Y
http://www.nanopub.org/nschema#hasPublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP871362.RAtuoQS30q4ThORCuBfL4ha3d9SJqZafY4Pb8A733sW1Y#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP871362.RAtuoQS30q4ThORCuBfL4ha3d9SJqZafY4Pb8A733sW1Y
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Nanopublication
http://rdf.disgenet.org/resource/nanopub/NP871362.RAtuoQS30q4ThORCuBfL4ha3d9SJqZafY4Pb8A733sW1Y#assertion
http://rdf.disgenet.org/resource/gda/DGN8dd5d3ce3ac075d4dd4e7473fad61403
http://semanticscience.org/resource/SIO_000628
http://identifiers.org/ncbigene/5727
http://rdf.disgenet.org/resource/gda/DGN8dd5d3ce3ac075d4dd4e7473fad61403
http://semanticscience.org/resource/SIO_000628
http://linkedlifedata.com/resource/umls/id/C0004779
http://rdf.disgenet.org/resource/gda/DGN8dd5d3ce3ac075d4dd4e7473fad61403
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://semanticscience.org/resource/SIO_001122
http://rdf.disgenet.org/resource/nanopub/NP871362.RAtuoQS30q4ThORCuBfL4ha3d9SJqZafY4Pb8A733sW1Y#provenance
http://rdf.disgenet.org/resource/nanopub/NP871362.RAtuoQS30q4ThORCuBfL4ha3d9SJqZafY4Pb8A733sW1Y#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/NP871362.RAtuoQS30q4ThORCuBfL4ha3d9SJqZafY4Pb8A733sW1Y#assertion
http://purl.org/ontology/wi/core#evidence
http://rdf.disgenet.org/v5.0.0/void/source_evidence_curated
http://rdf.disgenet.org/resource/nanopub/NP871362.RAtuoQS30q4ThORCuBfL4ha3d9SJqZafY4Pb8A733sW1Y#assertion
http://semanticscience.org/resource/SIO_000772
http://identifiers.org/pubmed/8981943
http://rdf.disgenet.org/resource/nanopub/NP871362.RAtuoQS30q4ThORCuBfL4ha3d9SJqZafY4Pb8A733sW1Y#assertion
http://www.w3.org/ns/prov#wasDerivedFrom
http://rdf.disgenet.org/v5.0.0/void/UNIPROT
http://rdf.disgenet.org/resource/nanopub/NP871362.RAtuoQS30q4ThORCuBfL4ha3d9SJqZafY4Pb8A733sW1Y#assertion
http://www.w3.org/ns/prov#wasGeneratedBy
http://purl.obolibrary.org/obo/ECO_0000218
http://rdf.disgenet.org/v5.0.0/void/UNIPROT
http://purl.org/pav/importedOn
2017-01-25
http://rdf.disgenet.org/v5.0.0/void/source_evidence_curated
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.obolibrary.org/obo/ECO_0000205
http://rdf.disgenet.org/v5.0.0/void/source_evidence_curated
http://www.w3.org/2000/01/rdf-schema#comment
Gene-disease associations manually curated.
http://rdf.disgenet.org/v5.0.0/void/source_evidence_curated
http://www.w3.org/2000/01/rdf-schema#label
DisGeNET evidence - CURATED
http://rdf.disgenet.org/resource/nanopub/NP871362.RAtuoQS30q4ThORCuBfL4ha3d9SJqZafY4Pb8A733sW1Y#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP871362.RAtuoQS30q4ThORCuBfL4ha3d9SJqZafY4Pb8A733sW1Y
http://purl.org/dc/terms/created
2017-10-17T13:15:44+02:00
http://rdf.disgenet.org/resource/nanopub/NP871362.RAtuoQS30q4ThORCuBfL4ha3d9SJqZafY4Pb8A733sW1Y
http://purl.org/dc/terms/rights
http://opendatacommons.org/licenses/odbl/1.0/
http://rdf.disgenet.org/resource/nanopub/NP871362.RAtuoQS30q4ThORCuBfL4ha3d9SJqZafY4Pb8A733sW1Y
http://purl.org/dc/terms/rightsHolder
http://rdf.disgenet.org/v5.0.0/void/IBIGroup
http://rdf.disgenet.org/resource/nanopub/NP871362.RAtuoQS30q4ThORCuBfL4ha3d9SJqZafY4Pb8A733sW1Y
http://purl.org/dc/terms/subject
http://semanticscience.org/resource/SIO_000983
http://rdf.disgenet.org/resource/nanopub/NP871362.RAtuoQS30q4ThORCuBfL4ha3d9SJqZafY4Pb8A733sW1Y
http://purl.org/net/provenance/ns#usedData
http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf
http://rdf.disgenet.org/resource/nanopub/NP871362.RAtuoQS30q4ThORCuBfL4ha3d9SJqZafY4Pb8A733sW1Y
http://purl.org/pav/authoredBy
http://orcid.org/0000-0001-5999-6269
http://rdf.disgenet.org/resource/nanopub/NP871362.RAtuoQS30q4ThORCuBfL4ha3d9SJqZafY4Pb8A733sW1Y
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-7534-7661
http://rdf.disgenet.org/resource/nanopub/NP871362.RAtuoQS30q4ThORCuBfL4ha3d9SJqZafY4Pb8A733sW1Y
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-9383-528X
http://rdf.disgenet.org/resource/nanopub/NP871362.RAtuoQS30q4ThORCuBfL4ha3d9SJqZafY4Pb8A733sW1Y
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP871362.RAtuoQS30q4ThORCuBfL4ha3d9SJqZafY4Pb8A733sW1Y
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-1244-7654
http://rdf.disgenet.org/resource/nanopub/NP871362.RAtuoQS30q4ThORCuBfL4ha3d9SJqZafY4Pb8A733sW1Y
http://purl.org/pav/createdBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP871362.RAtuoQS30q4ThORCuBfL4ha3d9SJqZafY4Pb8A733sW1Y
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