http://rdf.disgenet.org/resource/nanopub/NP1411769.RAvENap_yzUJ3T6KhFtfaN2gq1qHsYKV6CDcQZ0Gc4A08#head http://rdf.disgenet.org/resource/nanopub/NP1411769.RAvENap_yzUJ3T6KhFtfaN2gq1qHsYKV6CDcQZ0Gc4A08 http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP1411769.RAvENap_yzUJ3T6KhFtfaN2gq1qHsYKV6CDcQZ0Gc4A08#assertion http://rdf.disgenet.org/resource/nanopub/NP1411769.RAvENap_yzUJ3T6KhFtfaN2gq1qHsYKV6CDcQZ0Gc4A08 http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP1411769.RAvENap_yzUJ3T6KhFtfaN2gq1qHsYKV6CDcQZ0Gc4A08#provenance http://rdf.disgenet.org/resource/nanopub/NP1411769.RAvENap_yzUJ3T6KhFtfaN2gq1qHsYKV6CDcQZ0Gc4A08 http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP1411769.RAvENap_yzUJ3T6KhFtfaN2gq1qHsYKV6CDcQZ0Gc4A08#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1411769.RAvENap_yzUJ3T6KhFtfaN2gq1qHsYKV6CDcQZ0Gc4A08 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP1411769.RAvENap_yzUJ3T6KhFtfaN2gq1qHsYKV6CDcQZ0Gc4A08#assertion http://rdf.disgenet.org/resource/gda/DGN4b8c76b0d403d4acfe0b8d950b4cead2 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/158326 http://rdf.disgenet.org/resource/gda/DGN4b8c76b0d403d4acfe0b8d950b4cead2 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0542519 http://rdf.disgenet.org/resource/gda/DGN4b8c76b0d403d4acfe0b8d950b4cead2 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP1411769.RAvENap_yzUJ3T6KhFtfaN2gq1qHsYKV6CDcQZ0Gc4A08#provenance http://rdf.disgenet.org/resource/nanopub/NP1411769.RAvENap_yzUJ3T6KhFtfaN2gq1qHsYKV6CDcQZ0Gc4A08#assertion http://purl.org/dc/terms/description [Mutations in genes encoding Fras1, Frem1 and Frem2 are causative for dermal-epidermal detachment in the plane of sublamina densa and have been identified in different classes of mouse bleb mutants, the murine model of human Fraser syndrome, the hallmark phenotypic characteristics of which are embryonic skin blistering, cryptophthalmos and renal agenesis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP1411769.RAvENap_yzUJ3T6KhFtfaN2gq1qHsYKV6CDcQZ0Gc4A08#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/NP1411769.RAvENap_yzUJ3T6KhFtfaN2gq1qHsYKV6CDcQZ0Gc4A08#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/21182980 http://rdf.disgenet.org/resource/nanopub/NP1411769.RAvENap_yzUJ3T6KhFtfaN2gq1qHsYKV6CDcQZ0Gc4A08#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP1411769.RAvENap_yzUJ3T6KhFtfaN2gq1qHsYKV6CDcQZ0Gc4A08#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/NP1411769.RAvENap_yzUJ3T6KhFtfaN2gq1qHsYKV6CDcQZ0Gc4A08#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1411769.RAvENap_yzUJ3T6KhFtfaN2gq1qHsYKV6CDcQZ0Gc4A08 http://purl.org/dc/terms/created 2017-10-17T13:19:09+02:00 http://rdf.disgenet.org/resource/nanopub/NP1411769.RAvENap_yzUJ3T6KhFtfaN2gq1qHsYKV6CDcQZ0Gc4A08 http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP1411769.RAvENap_yzUJ3T6KhFtfaN2gq1qHsYKV6CDcQZ0Gc4A08 http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP1411769.RAvENap_yzUJ3T6KhFtfaN2gq1qHsYKV6CDcQZ0Gc4A08 http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP1411769.RAvENap_yzUJ3T6KhFtfaN2gq1qHsYKV6CDcQZ0Gc4A08 http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP1411769.RAvENap_yzUJ3T6KhFtfaN2gq1qHsYKV6CDcQZ0Gc4A08 http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP1411769.RAvENap_yzUJ3T6KhFtfaN2gq1qHsYKV6CDcQZ0Gc4A08 http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP1411769.RAvENap_yzUJ3T6KhFtfaN2gq1qHsYKV6CDcQZ0Gc4A08 http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP1411769.RAvENap_yzUJ3T6KhFtfaN2gq1qHsYKV6CDcQZ0Gc4A08 http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1411769.RAvENap_yzUJ3T6KhFtfaN2gq1qHsYKV6CDcQZ0Gc4A08 http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP1411769.RAvENap_yzUJ3T6KhFtfaN2gq1qHsYKV6CDcQZ0Gc4A08 http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1411769.RAvENap_yzUJ3T6KhFtfaN2gq1qHsYKV6CDcQZ0Gc4A08 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