http://rdf.disgenet.org/resource/nanopub/NP229657.RADsXjSiPlu-RSAOR6mcDlNtstXYnF-a_VTP5mw3OmXPU#head http://rdf.disgenet.org/resource/nanopub/NP229657.RADsXjSiPlu-RSAOR6mcDlNtstXYnF-a_VTP5mw3OmXPU http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP229657.RADsXjSiPlu-RSAOR6mcDlNtstXYnF-a_VTP5mw3OmXPU#assertion http://rdf.disgenet.org/resource/nanopub/NP229657.RADsXjSiPlu-RSAOR6mcDlNtstXYnF-a_VTP5mw3OmXPU http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP229657.RADsXjSiPlu-RSAOR6mcDlNtstXYnF-a_VTP5mw3OmXPU#provenance http://rdf.disgenet.org/resource/nanopub/NP229657.RADsXjSiPlu-RSAOR6mcDlNtstXYnF-a_VTP5mw3OmXPU http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP229657.RADsXjSiPlu-RSAOR6mcDlNtstXYnF-a_VTP5mw3OmXPU#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP229657.RADsXjSiPlu-RSAOR6mcDlNtstXYnF-a_VTP5mw3OmXPU http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP229657.RADsXjSiPlu-RSAOR6mcDlNtstXYnF-a_VTP5mw3OmXPU#assertion http://rdf.disgenet.org/resource/gda/DGNa4b934705d3b0b5a7e6d1976451468cd http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/1294 http://rdf.disgenet.org/resource/gda/DGNa4b934705d3b0b5a7e6d1976451468cd http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0007137 http://rdf.disgenet.org/resource/gda/DGNa4b934705d3b0b5a7e6d1976451468cd http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP229657.RADsXjSiPlu-RSAOR6mcDlNtstXYnF-a_VTP5mw3OmXPU#provenance http://rdf.disgenet.org/resource/nanopub/NP229657.RADsXjSiPlu-RSAOR6mcDlNtstXYnF-a_VTP5mw3OmXPU#assertion http://purl.org/dc/terms/description [Specifically, a large DDEB family with 2 individuals being affected with SCC was analyzed for potential mutations in the type VII collagen gene (COL7A1) by heteroduplex scanning and direct nucleotide sequencing of PCR amplified segments of the gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP229657.RADsXjSiPlu-RSAOR6mcDlNtstXYnF-a_VTP5mw3OmXPU#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/NP229657.RADsXjSiPlu-RSAOR6mcDlNtstXYnF-a_VTP5mw3OmXPU#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/10232408 http://rdf.disgenet.org/resource/nanopub/NP229657.RADsXjSiPlu-RSAOR6mcDlNtstXYnF-a_VTP5mw3OmXPU#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP229657.RADsXjSiPlu-RSAOR6mcDlNtstXYnF-a_VTP5mw3OmXPU#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/NP229657.RADsXjSiPlu-RSAOR6mcDlNtstXYnF-a_VTP5mw3OmXPU#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP229657.RADsXjSiPlu-RSAOR6mcDlNtstXYnF-a_VTP5mw3OmXPU http://purl.org/dc/terms/created 2017-10-17T13:11:39+02:00 http://rdf.disgenet.org/resource/nanopub/NP229657.RADsXjSiPlu-RSAOR6mcDlNtstXYnF-a_VTP5mw3OmXPU http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP229657.RADsXjSiPlu-RSAOR6mcDlNtstXYnF-a_VTP5mw3OmXPU http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP229657.RADsXjSiPlu-RSAOR6mcDlNtstXYnF-a_VTP5mw3OmXPU http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP229657.RADsXjSiPlu-RSAOR6mcDlNtstXYnF-a_VTP5mw3OmXPU http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP229657.RADsXjSiPlu-RSAOR6mcDlNtstXYnF-a_VTP5mw3OmXPU http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP229657.RADsXjSiPlu-RSAOR6mcDlNtstXYnF-a_VTP5mw3OmXPU http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP229657.RADsXjSiPlu-RSAOR6mcDlNtstXYnF-a_VTP5mw3OmXPU http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP229657.RADsXjSiPlu-RSAOR6mcDlNtstXYnF-a_VTP5mw3OmXPU http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP229657.RADsXjSiPlu-RSAOR6mcDlNtstXYnF-a_VTP5mw3OmXPU http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP229657.RADsXjSiPlu-RSAOR6mcDlNtstXYnF-a_VTP5mw3OmXPU http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP229657.RADsXjSiPlu-RSAOR6mcDlNtstXYnF-a_VTP5mw3OmXPU 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