http://rdf.disgenet.org/resource/nanopub/NP676337.RAXrTOwVHTXldM1RxV4gC6oSmrlpsK7fE_mh4HC9yjE-A#head
http://rdf.disgenet.org/resource/nanopub/NP676337.RAXrTOwVHTXldM1RxV4gC6oSmrlpsK7fE_mh4HC9yjE-A
http://www.nanopub.org/nschema#hasAssertion
http://rdf.disgenet.org/resource/nanopub/NP676337.RAXrTOwVHTXldM1RxV4gC6oSmrlpsK7fE_mh4HC9yjE-A#assertion
http://rdf.disgenet.org/resource/nanopub/NP676337.RAXrTOwVHTXldM1RxV4gC6oSmrlpsK7fE_mh4HC9yjE-A
http://www.nanopub.org/nschema#hasProvenance
http://rdf.disgenet.org/resource/nanopub/NP676337.RAXrTOwVHTXldM1RxV4gC6oSmrlpsK7fE_mh4HC9yjE-A#provenance
http://rdf.disgenet.org/resource/nanopub/NP676337.RAXrTOwVHTXldM1RxV4gC6oSmrlpsK7fE_mh4HC9yjE-A
http://www.nanopub.org/nschema#hasPublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP676337.RAXrTOwVHTXldM1RxV4gC6oSmrlpsK7fE_mh4HC9yjE-A#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP676337.RAXrTOwVHTXldM1RxV4gC6oSmrlpsK7fE_mh4HC9yjE-A
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Nanopublication
http://rdf.disgenet.org/resource/nanopub/NP676337.RAXrTOwVHTXldM1RxV4gC6oSmrlpsK7fE_mh4HC9yjE-A#assertion
http://rdf.disgenet.org/resource/gda/DGN4e1916ef0b94af9c50004178cb80e43b
http://semanticscience.org/resource/SIO_000628
http://identifiers.org/ncbigene/4204
http://rdf.disgenet.org/resource/gda/DGN4e1916ef0b94af9c50004178cb80e43b
http://semanticscience.org/resource/SIO_000628
http://linkedlifedata.com/resource/umls/id/C0035372
http://rdf.disgenet.org/resource/gda/DGN4e1916ef0b94af9c50004178cb80e43b
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://semanticscience.org/resource/SIO_001122
http://rdf.disgenet.org/resource/nanopub/NP676337.RAXrTOwVHTXldM1RxV4gC6oSmrlpsK7fE_mh4HC9yjE-A#provenance
http://rdf.disgenet.org/resource/nanopub/NP676337.RAXrTOwVHTXldM1RxV4gC6oSmrlpsK7fE_mh4HC9yjE-A#assertion
http://purl.org/dc/terms/description
[Aim of the study was to unveil possible relationships between plasma proteome and phenotypic expression in two cases of familial RTT represented by two pairs of sisters, harbor the same MECP2 gene mutation while being dramatically discrepant in phenotype, that is, classical RTT versus PSV.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
http://rdf.disgenet.org/resource/nanopub/NP676337.RAXrTOwVHTXldM1RxV4gC6oSmrlpsK7fE_mh4HC9yjE-A#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/NP676337.RAXrTOwVHTXldM1RxV4gC6oSmrlpsK7fE_mh4HC9yjE-A#assertion
http://semanticscience.org/resource/SIO_000772
http://identifiers.org/pubmed/24453418
http://rdf.disgenet.org/resource/nanopub/NP676337.RAXrTOwVHTXldM1RxV4gC6oSmrlpsK7fE_mh4HC9yjE-A#assertion
http://www.w3.org/ns/prov#wasDerivedFrom
http://rdf.disgenet.org/v5.0.0/void/BEFREE
http://rdf.disgenet.org/resource/nanopub/NP676337.RAXrTOwVHTXldM1RxV4gC6oSmrlpsK7fE_mh4HC9yjE-A#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/NP676337.RAXrTOwVHTXldM1RxV4gC6oSmrlpsK7fE_mh4HC9yjE-A#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP676337.RAXrTOwVHTXldM1RxV4gC6oSmrlpsK7fE_mh4HC9yjE-A
http://purl.org/dc/terms/created
2017-10-17T13:14:29+02:00
http://rdf.disgenet.org/resource/nanopub/NP676337.RAXrTOwVHTXldM1RxV4gC6oSmrlpsK7fE_mh4HC9yjE-A
http://purl.org/dc/terms/rights
http://opendatacommons.org/licenses/odbl/1.0/
http://rdf.disgenet.org/resource/nanopub/NP676337.RAXrTOwVHTXldM1RxV4gC6oSmrlpsK7fE_mh4HC9yjE-A
http://purl.org/dc/terms/rightsHolder
http://rdf.disgenet.org/v5.0.0/void/IBIGroup
http://rdf.disgenet.org/resource/nanopub/NP676337.RAXrTOwVHTXldM1RxV4gC6oSmrlpsK7fE_mh4HC9yjE-A
http://purl.org/dc/terms/subject
http://semanticscience.org/resource/SIO_000983
http://rdf.disgenet.org/resource/nanopub/NP676337.RAXrTOwVHTXldM1RxV4gC6oSmrlpsK7fE_mh4HC9yjE-A
http://purl.org/net/provenance/ns#usedData
http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf
http://rdf.disgenet.org/resource/nanopub/NP676337.RAXrTOwVHTXldM1RxV4gC6oSmrlpsK7fE_mh4HC9yjE-A
http://purl.org/pav/authoredBy
http://orcid.org/0000-0001-5999-6269
http://rdf.disgenet.org/resource/nanopub/NP676337.RAXrTOwVHTXldM1RxV4gC6oSmrlpsK7fE_mh4HC9yjE-A
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-7534-7661
http://rdf.disgenet.org/resource/nanopub/NP676337.RAXrTOwVHTXldM1RxV4gC6oSmrlpsK7fE_mh4HC9yjE-A
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-9383-528X
http://rdf.disgenet.org/resource/nanopub/NP676337.RAXrTOwVHTXldM1RxV4gC6oSmrlpsK7fE_mh4HC9yjE-A
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP676337.RAXrTOwVHTXldM1RxV4gC6oSmrlpsK7fE_mh4HC9yjE-A
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-1244-7654
http://rdf.disgenet.org/resource/nanopub/NP676337.RAXrTOwVHTXldM1RxV4gC6oSmrlpsK7fE_mh4HC9yjE-A
http://purl.org/pav/createdBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP676337.RAXrTOwVHTXldM1RxV4gC6oSmrlpsK7fE_mh4HC9yjE-A
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