http://rdf.disgenet.org/resource/nanopub/NP861346.RAhKcu-dWWcLSKJDlGPKo45cFJ_QL500vZ-JUeK3S2zM0130_head http://rdf.disgenet.org/resource/nanopub/NP861346.RAhKcu-dWWcLSKJDlGPKo45cFJ_QL500vZ-JUeK3S2zM0 http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP861346.RAhKcu-dWWcLSKJDlGPKo45cFJ_QL500vZ-JUeK3S2zM0130_assertion http://rdf.disgenet.org/resource/nanopub/NP861346.RAhKcu-dWWcLSKJDlGPKo45cFJ_QL500vZ-JUeK3S2zM0 http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP861346.RAhKcu-dWWcLSKJDlGPKo45cFJ_QL500vZ-JUeK3S2zM0130_provenance http://rdf.disgenet.org/resource/nanopub/NP861346.RAhKcu-dWWcLSKJDlGPKo45cFJ_QL500vZ-JUeK3S2zM0 http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP861346.RAhKcu-dWWcLSKJDlGPKo45cFJ_QL500vZ-JUeK3S2zM0130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP861346.RAhKcu-dWWcLSKJDlGPKo45cFJ_QL500vZ-JUeK3S2zM0 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP861346.RAhKcu-dWWcLSKJDlGPKo45cFJ_QL500vZ-JUeK3S2zM0130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP861346.RAhKcu-dWWcLSKJDlGPKo45cFJ_QL500vZ-JUeK3S2zM0130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP861346.RAhKcu-dWWcLSKJDlGPKo45cFJ_QL500vZ-JUeK3S2zM0130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP861346.RAhKcu-dWWcLSKJDlGPKo45cFJ_QL500vZ-JUeK3S2zM0130_assertion http://identifiers.org/ncbigene/341640 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C16612 http://linkedlifedata.com/resource/umls/id/C0542519 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C7057 http://rdf.disgenet.org/resource/gda/DGN9671e7e51852968f9b7713e19697ad61 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/341640 http://rdf.disgenet.org/resource/gda/DGN9671e7e51852968f9b7713e19697ad61 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0542519 http://rdf.disgenet.org/resource/gda/DGN9671e7e51852968f9b7713e19697ad61 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP861346.RAhKcu-dWWcLSKJDlGPKo45cFJ_QL500vZ-JUeK3S2zM0130_provenance http://rdf.disgenet.org/resource/nanopub/NP861346.RAhKcu-dWWcLSKJDlGPKo45cFJ_QL500vZ-JUeK3S2zM0130_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/NP861346.RAhKcu-dWWcLSKJDlGPKo45cFJ_QL500vZ-JUeK3S2zM0130_assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v4.0.0/void/source_evidence_literature http://rdf.disgenet.org/resource/nanopub/NP861346.RAhKcu-dWWcLSKJDlGPKo45cFJ_QL500vZ-JUeK3S2zM0130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/21182980 http://rdf.disgenet.org/resource/nanopub/NP861346.RAhKcu-dWWcLSKJDlGPKo45cFJ_QL500vZ-JUeK3S2zM0130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v4.0.0/void/befree-2016 http://rdf.disgenet.org/resource/nanopub/NP861346.RAhKcu-dWWcLSKJDlGPKo45cFJ_QL500vZ-JUeK3S2zM0130_assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/ECO_0000203 http://rdf.disgenet.org/v4.0.0/void/befree-2016 http://purl.org/pav/importedOn 2016-02-19 http://rdf.disgenet.org/v4.0.0/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/v4.0.0/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/v4.0.0/void/source_evidence_literature http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - LITERATURE http://rdf.disgenet.org/resource/nanopub/NP861346.RAhKcu-dWWcLSKJDlGPKo45cFJ_QL500vZ-JUeK3S2zM0130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP861346.RAhKcu-dWWcLSKJDlGPKo45cFJ_QL500vZ-JUeK3S2zM0 http://purl.org/dc/terms/created 2016-05-13T12:48:15+02:00 http://rdf.disgenet.org/resource/nanopub/NP861346.RAhKcu-dWWcLSKJDlGPKo45cFJ_QL500vZ-JUeK3S2zM0 http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP861346.RAhKcu-dWWcLSKJDlGPKo45cFJ_QL500vZ-JUeK3S2zM0 http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v4.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP861346.RAhKcu-dWWcLSKJDlGPKo45cFJ_QL500vZ-JUeK3S2zM0 http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP861346.RAhKcu-dWWcLSKJDlGPKo45cFJ_QL500vZ-JUeK3S2zM0 http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP861346.RAhKcu-dWWcLSKJDlGPKo45cFJ_QL500vZ-JUeK3S2zM0 http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP861346.RAhKcu-dWWcLSKJDlGPKo45cFJ_QL500vZ-JUeK3S2zM0 http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP861346.RAhKcu-dWWcLSKJDlGPKo45cFJ_QL500vZ-JUeK3S2zM0 http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP861346.RAhKcu-dWWcLSKJDlGPKo45cFJ_QL500vZ-JUeK3S2zM0 http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP861346.RAhKcu-dWWcLSKJDlGPKo45cFJ_QL500vZ-JUeK3S2zM0 http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP861346.RAhKcu-dWWcLSKJDlGPKo45cFJ_QL500vZ-JUeK3S2zM0 http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP861346.RAhKcu-dWWcLSKJDlGPKo45cFJ_QL500vZ-JUeK3S2zM0 http://purl.org/pav/version v4.0.0.0 http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://purl.org/pav/version v4.0.0