http://rdf.disgenet.org/resource/nanopub/NP1373992.RAEyBlyfYlCNrNGsfB4d1ri3eCXr_agZSIHI1ajvCoDb4#head http://rdf.disgenet.org/resource/nanopub/NP1373992.RAEyBlyfYlCNrNGsfB4d1ri3eCXr_agZSIHI1ajvCoDb4 http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP1373992.RAEyBlyfYlCNrNGsfB4d1ri3eCXr_agZSIHI1ajvCoDb4#assertion http://rdf.disgenet.org/resource/nanopub/NP1373992.RAEyBlyfYlCNrNGsfB4d1ri3eCXr_agZSIHI1ajvCoDb4 http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP1373992.RAEyBlyfYlCNrNGsfB4d1ri3eCXr_agZSIHI1ajvCoDb4#provenance http://rdf.disgenet.org/resource/nanopub/NP1373992.RAEyBlyfYlCNrNGsfB4d1ri3eCXr_agZSIHI1ajvCoDb4 http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP1373992.RAEyBlyfYlCNrNGsfB4d1ri3eCXr_agZSIHI1ajvCoDb4#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1373992.RAEyBlyfYlCNrNGsfB4d1ri3eCXr_agZSIHI1ajvCoDb4 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP1373992.RAEyBlyfYlCNrNGsfB4d1ri3eCXr_agZSIHI1ajvCoDb4#assertion http://rdf.disgenet.org/resource/gda/DGN97418108279b1d7dfe29e6f0c9f9c6a2 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/80144 http://rdf.disgenet.org/resource/gda/DGN97418108279b1d7dfe29e6f0c9f9c6a2 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0265233 http://rdf.disgenet.org/resource/gda/DGN97418108279b1d7dfe29e6f0c9f9c6a2 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP1373992.RAEyBlyfYlCNrNGsfB4d1ri3eCXr_agZSIHI1ajvCoDb4#provenance http://rdf.disgenet.org/resource/nanopub/NP1373992.RAEyBlyfYlCNrNGsfB4d1ri3eCXr_agZSIHI1ajvCoDb4#assertion http://purl.org/dc/terms/description [The milder phenotypes associated with FREM1 deficiency in humans (MOTA syndrome and BNAR syndrome) compared to that resulting from FRAS1 and FREM2 loss of function (Fraser syndrome) are also consistent with the less severe phenotypes resulting from Frem1 loss of function in mice.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP1373992.RAEyBlyfYlCNrNGsfB4d1ri3eCXr_agZSIHI1ajvCoDb4#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/NP1373992.RAEyBlyfYlCNrNGsfB4d1ri3eCXr_agZSIHI1ajvCoDb4#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/21507892 http://rdf.disgenet.org/resource/nanopub/NP1373992.RAEyBlyfYlCNrNGsfB4d1ri3eCXr_agZSIHI1ajvCoDb4#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP1373992.RAEyBlyfYlCNrNGsfB4d1ri3eCXr_agZSIHI1ajvCoDb4#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/NP1373992.RAEyBlyfYlCNrNGsfB4d1ri3eCXr_agZSIHI1ajvCoDb4#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1373992.RAEyBlyfYlCNrNGsfB4d1ri3eCXr_agZSIHI1ajvCoDb4 http://purl.org/dc/terms/created 2017-10-17T13:18:55+02:00 http://rdf.disgenet.org/resource/nanopub/NP1373992.RAEyBlyfYlCNrNGsfB4d1ri3eCXr_agZSIHI1ajvCoDb4 http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP1373992.RAEyBlyfYlCNrNGsfB4d1ri3eCXr_agZSIHI1ajvCoDb4 http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP1373992.RAEyBlyfYlCNrNGsfB4d1ri3eCXr_agZSIHI1ajvCoDb4 http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP1373992.RAEyBlyfYlCNrNGsfB4d1ri3eCXr_agZSIHI1ajvCoDb4 http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP1373992.RAEyBlyfYlCNrNGsfB4d1ri3eCXr_agZSIHI1ajvCoDb4 http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP1373992.RAEyBlyfYlCNrNGsfB4d1ri3eCXr_agZSIHI1ajvCoDb4 http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP1373992.RAEyBlyfYlCNrNGsfB4d1ri3eCXr_agZSIHI1ajvCoDb4 http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP1373992.RAEyBlyfYlCNrNGsfB4d1ri3eCXr_agZSIHI1ajvCoDb4 http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1373992.RAEyBlyfYlCNrNGsfB4d1ri3eCXr_agZSIHI1ajvCoDb4 http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP1373992.RAEyBlyfYlCNrNGsfB4d1ri3eCXr_agZSIHI1ajvCoDb4 http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1373992.RAEyBlyfYlCNrNGsfB4d1ri3eCXr_agZSIHI1ajvCoDb4 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