http://rdf.disgenet.org/resource/nanopub/NP866916.RADeIXc811Ab_r3Vz_nUteYULeChPtLCKSI8w_Oo7QhV4#head
http://rdf.disgenet.org/resource/nanopub/NP866916.RADeIXc811Ab_r3Vz_nUteYULeChPtLCKSI8w_Oo7QhV4
http://www.nanopub.org/nschema#hasAssertion
http://rdf.disgenet.org/resource/nanopub/NP866916.RADeIXc811Ab_r3Vz_nUteYULeChPtLCKSI8w_Oo7QhV4#assertion
http://rdf.disgenet.org/resource/nanopub/NP866916.RADeIXc811Ab_r3Vz_nUteYULeChPtLCKSI8w_Oo7QhV4
http://www.nanopub.org/nschema#hasProvenance
http://rdf.disgenet.org/resource/nanopub/NP866916.RADeIXc811Ab_r3Vz_nUteYULeChPtLCKSI8w_Oo7QhV4#provenance
http://rdf.disgenet.org/resource/nanopub/NP866916.RADeIXc811Ab_r3Vz_nUteYULeChPtLCKSI8w_Oo7QhV4
http://www.nanopub.org/nschema#hasPublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP866916.RADeIXc811Ab_r3Vz_nUteYULeChPtLCKSI8w_Oo7QhV4#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP866916.RADeIXc811Ab_r3Vz_nUteYULeChPtLCKSI8w_Oo7QhV4
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Nanopublication
http://rdf.disgenet.org/resource/nanopub/NP866916.RADeIXc811Ab_r3Vz_nUteYULeChPtLCKSI8w_Oo7QhV4#assertion
http://rdf.disgenet.org/resource/gda/DGN09266c9e53f83be7b29c87eef4c7b247
http://semanticscience.org/resource/SIO_000628
http://identifiers.org/ncbigene/5663
http://rdf.disgenet.org/resource/gda/DGN09266c9e53f83be7b29c87eef4c7b247
http://semanticscience.org/resource/SIO_000628
http://linkedlifedata.com/resource/umls/id/C0276496
http://rdf.disgenet.org/resource/gda/DGN09266c9e53f83be7b29c87eef4c7b247
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://semanticscience.org/resource/SIO_001122
http://rdf.disgenet.org/resource/nanopub/NP866916.RADeIXc811Ab_r3Vz_nUteYULeChPtLCKSI8w_Oo7QhV4#provenance
http://rdf.disgenet.org/resource/nanopub/NP866916.RADeIXc811Ab_r3Vz_nUteYULeChPtLCKSI8w_Oo7QhV4#assertion
http://purl.org/dc/terms/description
[Presenilin 1 gene (PS1) mutations cause heterogeneous disorders and a bibliographical review of atypical PS1-FAD cases allows us to describe a great diversity of neuropathological and clinical variations and conclude that most of them do not strongly depend on the genetic location of the mutation so other genetic or epigenetic factors may be involved.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
http://rdf.disgenet.org/resource/nanopub/NP866916.RADeIXc811Ab_r3Vz_nUteYULeChPtLCKSI8w_Oo7QhV4#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/NP866916.RADeIXc811Ab_r3Vz_nUteYULeChPtLCKSI8w_Oo7QhV4#assertion
http://semanticscience.org/resource/SIO_000772
http://identifiers.org/pubmed/15505368
http://rdf.disgenet.org/resource/nanopub/NP866916.RADeIXc811Ab_r3Vz_nUteYULeChPtLCKSI8w_Oo7QhV4#assertion
http://www.w3.org/ns/prov#wasDerivedFrom
http://rdf.disgenet.org/v5.0.0/void/BEFREE
http://rdf.disgenet.org/resource/nanopub/NP866916.RADeIXc811Ab_r3Vz_nUteYULeChPtLCKSI8w_Oo7QhV4#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/NP866916.RADeIXc811Ab_r3Vz_nUteYULeChPtLCKSI8w_Oo7QhV4#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP866916.RADeIXc811Ab_r3Vz_nUteYULeChPtLCKSI8w_Oo7QhV4
http://purl.org/dc/terms/created
2017-10-17T13:15:42+02:00
http://rdf.disgenet.org/resource/nanopub/NP866916.RADeIXc811Ab_r3Vz_nUteYULeChPtLCKSI8w_Oo7QhV4
http://purl.org/dc/terms/rights
http://opendatacommons.org/licenses/odbl/1.0/
http://rdf.disgenet.org/resource/nanopub/NP866916.RADeIXc811Ab_r3Vz_nUteYULeChPtLCKSI8w_Oo7QhV4
http://purl.org/dc/terms/rightsHolder
http://rdf.disgenet.org/v5.0.0/void/IBIGroup
http://rdf.disgenet.org/resource/nanopub/NP866916.RADeIXc811Ab_r3Vz_nUteYULeChPtLCKSI8w_Oo7QhV4
http://purl.org/dc/terms/subject
http://semanticscience.org/resource/SIO_000983
http://rdf.disgenet.org/resource/nanopub/NP866916.RADeIXc811Ab_r3Vz_nUteYULeChPtLCKSI8w_Oo7QhV4
http://purl.org/net/provenance/ns#usedData
http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf
http://rdf.disgenet.org/resource/nanopub/NP866916.RADeIXc811Ab_r3Vz_nUteYULeChPtLCKSI8w_Oo7QhV4
http://purl.org/pav/authoredBy
http://orcid.org/0000-0001-5999-6269
http://rdf.disgenet.org/resource/nanopub/NP866916.RADeIXc811Ab_r3Vz_nUteYULeChPtLCKSI8w_Oo7QhV4
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-7534-7661
http://rdf.disgenet.org/resource/nanopub/NP866916.RADeIXc811Ab_r3Vz_nUteYULeChPtLCKSI8w_Oo7QhV4
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-9383-528X
http://rdf.disgenet.org/resource/nanopub/NP866916.RADeIXc811Ab_r3Vz_nUteYULeChPtLCKSI8w_Oo7QhV4
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP866916.RADeIXc811Ab_r3Vz_nUteYULeChPtLCKSI8w_Oo7QhV4
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-1244-7654
http://rdf.disgenet.org/resource/nanopub/NP866916.RADeIXc811Ab_r3Vz_nUteYULeChPtLCKSI8w_Oo7QhV4
http://purl.org/pav/createdBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP866916.RADeIXc811Ab_r3Vz_nUteYULeChPtLCKSI8w_Oo7QhV4
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