http://rdf.disgenet.org/resource/nanopub/NP229595.RA_gfRQbE6mXWVWLqDcMvyZxflvA4irdx-S5M2hMh0FEo#head http://rdf.disgenet.org/resource/nanopub/NP229595.RA_gfRQbE6mXWVWLqDcMvyZxflvA4irdx-S5M2hMh0FEo http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP229595.RA_gfRQbE6mXWVWLqDcMvyZxflvA4irdx-S5M2hMh0FEo#assertion http://rdf.disgenet.org/resource/nanopub/NP229595.RA_gfRQbE6mXWVWLqDcMvyZxflvA4irdx-S5M2hMh0FEo http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP229595.RA_gfRQbE6mXWVWLqDcMvyZxflvA4irdx-S5M2hMh0FEo#provenance http://rdf.disgenet.org/resource/nanopub/NP229595.RA_gfRQbE6mXWVWLqDcMvyZxflvA4irdx-S5M2hMh0FEo http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP229595.RA_gfRQbE6mXWVWLqDcMvyZxflvA4irdx-S5M2hMh0FEo#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP229595.RA_gfRQbE6mXWVWLqDcMvyZxflvA4irdx-S5M2hMh0FEo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP229595.RA_gfRQbE6mXWVWLqDcMvyZxflvA4irdx-S5M2hMh0FEo#assertion http://rdf.disgenet.org/resource/gda/DGN09a7e1c24ace776e96f58d4a7588f5b9 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/1294 http://rdf.disgenet.org/resource/gda/DGN09a7e1c24ace776e96f58d4a7588f5b9 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0079474 http://rdf.disgenet.org/resource/gda/DGN09a7e1c24ace776e96f58d4a7588f5b9 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP229595.RA_gfRQbE6mXWVWLqDcMvyZxflvA4irdx-S5M2hMh0FEo#provenance http://rdf.disgenet.org/resource/nanopub/NP229595.RA_gfRQbE6mXWVWLqDcMvyZxflvA4irdx-S5M2hMh0FEo#assertion http://purl.org/dc/terms/description [In this study we searched for mutations in the type VII collagen gene (COL7A1) in 10 families from Southern Italy with severe generalised recessive dystrophic epidermolysis bullosa using PCR amplification of genomic DNA, heteroduplex analysis and direct nucleotide sequencing.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP229595.RA_gfRQbE6mXWVWLqDcMvyZxflvA4irdx-S5M2hMh0FEo#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/NP229595.RA_gfRQbE6mXWVWLqDcMvyZxflvA4irdx-S5M2hMh0FEo#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/10354186 http://rdf.disgenet.org/resource/nanopub/NP229595.RA_gfRQbE6mXWVWLqDcMvyZxflvA4irdx-S5M2hMh0FEo#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP229595.RA_gfRQbE6mXWVWLqDcMvyZxflvA4irdx-S5M2hMh0FEo#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/NP229595.RA_gfRQbE6mXWVWLqDcMvyZxflvA4irdx-S5M2hMh0FEo#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP229595.RA_gfRQbE6mXWVWLqDcMvyZxflvA4irdx-S5M2hMh0FEo http://purl.org/dc/terms/created 2017-10-17T13:11:39+02:00 http://rdf.disgenet.org/resource/nanopub/NP229595.RA_gfRQbE6mXWVWLqDcMvyZxflvA4irdx-S5M2hMh0FEo http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP229595.RA_gfRQbE6mXWVWLqDcMvyZxflvA4irdx-S5M2hMh0FEo http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP229595.RA_gfRQbE6mXWVWLqDcMvyZxflvA4irdx-S5M2hMh0FEo http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP229595.RA_gfRQbE6mXWVWLqDcMvyZxflvA4irdx-S5M2hMh0FEo http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP229595.RA_gfRQbE6mXWVWLqDcMvyZxflvA4irdx-S5M2hMh0FEo http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP229595.RA_gfRQbE6mXWVWLqDcMvyZxflvA4irdx-S5M2hMh0FEo http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP229595.RA_gfRQbE6mXWVWLqDcMvyZxflvA4irdx-S5M2hMh0FEo http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP229595.RA_gfRQbE6mXWVWLqDcMvyZxflvA4irdx-S5M2hMh0FEo http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP229595.RA_gfRQbE6mXWVWLqDcMvyZxflvA4irdx-S5M2hMh0FEo http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP229595.RA_gfRQbE6mXWVWLqDcMvyZxflvA4irdx-S5M2hMh0FEo http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP229595.RA_gfRQbE6mXWVWLqDcMvyZxflvA4irdx-S5M2hMh0FEo 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