http://rdf.disgenet.org/resource/nanopub/NP1373965.RAIN5Xt6DoQujPQz2hW_7v4PPZ8p31GOO7PvSqXu6sxms#head http://rdf.disgenet.org/resource/nanopub/NP1373965.RAIN5Xt6DoQujPQz2hW_7v4PPZ8p31GOO7PvSqXu6sxms http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP1373965.RAIN5Xt6DoQujPQz2hW_7v4PPZ8p31GOO7PvSqXu6sxms#assertion http://rdf.disgenet.org/resource/nanopub/NP1373965.RAIN5Xt6DoQujPQz2hW_7v4PPZ8p31GOO7PvSqXu6sxms http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP1373965.RAIN5Xt6DoQujPQz2hW_7v4PPZ8p31GOO7PvSqXu6sxms#provenance http://rdf.disgenet.org/resource/nanopub/NP1373965.RAIN5Xt6DoQujPQz2hW_7v4PPZ8p31GOO7PvSqXu6sxms http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP1373965.RAIN5Xt6DoQujPQz2hW_7v4PPZ8p31GOO7PvSqXu6sxms#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1373965.RAIN5Xt6DoQujPQz2hW_7v4PPZ8p31GOO7PvSqXu6sxms http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP1373965.RAIN5Xt6DoQujPQz2hW_7v4PPZ8p31GOO7PvSqXu6sxms#assertion http://rdf.disgenet.org/resource/gda/DGNc10be07022c17ddd3ce16a18154c47d4 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/80144 http://rdf.disgenet.org/resource/gda/DGNc10be07022c17ddd3ce16a18154c47d4 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C1609433 http://rdf.disgenet.org/resource/gda/DGNc10be07022c17ddd3ce16a18154c47d4 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP1373965.RAIN5Xt6DoQujPQz2hW_7v4PPZ8p31GOO7PvSqXu6sxms#provenance http://rdf.disgenet.org/resource/nanopub/NP1373965.RAIN5Xt6DoQujPQz2hW_7v4PPZ8p31GOO7PvSqXu6sxms#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/NP1373965.RAIN5Xt6DoQujPQz2hW_7v4PPZ8p31GOO7PvSqXu6sxms#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/NP1373965.RAIN5Xt6DoQujPQz2hW_7v4PPZ8p31GOO7PvSqXu6sxms#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/21182980 http://rdf.disgenet.org/resource/nanopub/NP1373965.RAIN5Xt6DoQujPQz2hW_7v4PPZ8p31GOO7PvSqXu6sxms#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP1373965.RAIN5Xt6DoQujPQz2hW_7v4PPZ8p31GOO7PvSqXu6sxms#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/NP1373965.RAIN5Xt6DoQujPQz2hW_7v4PPZ8p31GOO7PvSqXu6sxms#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1373965.RAIN5Xt6DoQujPQz2hW_7v4PPZ8p31GOO7PvSqXu6sxms http://purl.org/dc/terms/created 2017-10-17T13:18:55+02:00 http://rdf.disgenet.org/resource/nanopub/NP1373965.RAIN5Xt6DoQujPQz2hW_7v4PPZ8p31GOO7PvSqXu6sxms http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP1373965.RAIN5Xt6DoQujPQz2hW_7v4PPZ8p31GOO7PvSqXu6sxms http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP1373965.RAIN5Xt6DoQujPQz2hW_7v4PPZ8p31GOO7PvSqXu6sxms http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP1373965.RAIN5Xt6DoQujPQz2hW_7v4PPZ8p31GOO7PvSqXu6sxms http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP1373965.RAIN5Xt6DoQujPQz2hW_7v4PPZ8p31GOO7PvSqXu6sxms http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP1373965.RAIN5Xt6DoQujPQz2hW_7v4PPZ8p31GOO7PvSqXu6sxms http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP1373965.RAIN5Xt6DoQujPQz2hW_7v4PPZ8p31GOO7PvSqXu6sxms http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP1373965.RAIN5Xt6DoQujPQz2hW_7v4PPZ8p31GOO7PvSqXu6sxms http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1373965.RAIN5Xt6DoQujPQz2hW_7v4PPZ8p31GOO7PvSqXu6sxms http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP1373965.RAIN5Xt6DoQujPQz2hW_7v4PPZ8p31GOO7PvSqXu6sxms http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1373965.RAIN5Xt6DoQujPQz2hW_7v4PPZ8p31GOO7PvSqXu6sxms 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