http://rdf.disgenet.org/resource/nanopub/NP677197.RAwXWwgD5KiWkWyeSkPyCFQMRhvxYabWBvPZs7CFkivHs#head
http://rdf.disgenet.org/resource/nanopub/NP677197.RAwXWwgD5KiWkWyeSkPyCFQMRhvxYabWBvPZs7CFkivHs
http://www.nanopub.org/nschema#hasAssertion
http://rdf.disgenet.org/resource/nanopub/NP677197.RAwXWwgD5KiWkWyeSkPyCFQMRhvxYabWBvPZs7CFkivHs#assertion
http://rdf.disgenet.org/resource/nanopub/NP677197.RAwXWwgD5KiWkWyeSkPyCFQMRhvxYabWBvPZs7CFkivHs
http://www.nanopub.org/nschema#hasProvenance
http://rdf.disgenet.org/resource/nanopub/NP677197.RAwXWwgD5KiWkWyeSkPyCFQMRhvxYabWBvPZs7CFkivHs#provenance
http://rdf.disgenet.org/resource/nanopub/NP677197.RAwXWwgD5KiWkWyeSkPyCFQMRhvxYabWBvPZs7CFkivHs
http://www.nanopub.org/nschema#hasPublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP677197.RAwXWwgD5KiWkWyeSkPyCFQMRhvxYabWBvPZs7CFkivHs#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP677197.RAwXWwgD5KiWkWyeSkPyCFQMRhvxYabWBvPZs7CFkivHs
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Nanopublication
http://rdf.disgenet.org/resource/nanopub/NP677197.RAwXWwgD5KiWkWyeSkPyCFQMRhvxYabWBvPZs7CFkivHs#assertion
http://rdf.disgenet.org/resource/gda/DGNd6f21fe5e1f25f107f45bc30eedcbe4f
http://semanticscience.org/resource/SIO_000628
http://identifiers.org/ncbigene/4204
http://rdf.disgenet.org/resource/gda/DGNd6f21fe5e1f25f107f45bc30eedcbe4f
http://semanticscience.org/resource/SIO_000628
http://linkedlifedata.com/resource/umls/id/C0015230
http://rdf.disgenet.org/resource/gda/DGNd6f21fe5e1f25f107f45bc30eedcbe4f
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://semanticscience.org/resource/SIO_001122
http://rdf.disgenet.org/resource/nanopub/NP677197.RAwXWwgD5KiWkWyeSkPyCFQMRhvxYabWBvPZs7CFkivHs#provenance
http://rdf.disgenet.org/resource/nanopub/NP677197.RAwXWwgD5KiWkWyeSkPyCFQMRhvxYabWBvPZs7CFkivHs#assertion
http://purl.org/dc/terms/description
[Our results confirm the presence of mutational hot spots in MECP2, broaden the spectrum of mutations, pinpoint additional mutational hot spots and establish that the preserved speech variant is indeed allelic of the classic form.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
http://rdf.disgenet.org/resource/nanopub/NP677197.RAwXWwgD5KiWkWyeSkPyCFQMRhvxYabWBvPZs7CFkivHs#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/NP677197.RAwXWwgD5KiWkWyeSkPyCFQMRhvxYabWBvPZs7CFkivHs#assertion
http://semanticscience.org/resource/SIO_000772
http://identifiers.org/pubmed/10854091
http://rdf.disgenet.org/resource/nanopub/NP677197.RAwXWwgD5KiWkWyeSkPyCFQMRhvxYabWBvPZs7CFkivHs#assertion
http://www.w3.org/ns/prov#wasDerivedFrom
http://rdf.disgenet.org/v5.0.0/void/BEFREE
http://rdf.disgenet.org/resource/nanopub/NP677197.RAwXWwgD5KiWkWyeSkPyCFQMRhvxYabWBvPZs7CFkivHs#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/NP677197.RAwXWwgD5KiWkWyeSkPyCFQMRhvxYabWBvPZs7CFkivHs#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP677197.RAwXWwgD5KiWkWyeSkPyCFQMRhvxYabWBvPZs7CFkivHs
http://purl.org/dc/terms/created
2017-10-17T13:14:30+02:00
http://rdf.disgenet.org/resource/nanopub/NP677197.RAwXWwgD5KiWkWyeSkPyCFQMRhvxYabWBvPZs7CFkivHs
http://purl.org/dc/terms/rights
http://opendatacommons.org/licenses/odbl/1.0/
http://rdf.disgenet.org/resource/nanopub/NP677197.RAwXWwgD5KiWkWyeSkPyCFQMRhvxYabWBvPZs7CFkivHs
http://purl.org/dc/terms/rightsHolder
http://rdf.disgenet.org/v5.0.0/void/IBIGroup
http://rdf.disgenet.org/resource/nanopub/NP677197.RAwXWwgD5KiWkWyeSkPyCFQMRhvxYabWBvPZs7CFkivHs
http://purl.org/dc/terms/subject
http://semanticscience.org/resource/SIO_000983
http://rdf.disgenet.org/resource/nanopub/NP677197.RAwXWwgD5KiWkWyeSkPyCFQMRhvxYabWBvPZs7CFkivHs
http://purl.org/net/provenance/ns#usedData
http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf
http://rdf.disgenet.org/resource/nanopub/NP677197.RAwXWwgD5KiWkWyeSkPyCFQMRhvxYabWBvPZs7CFkivHs
http://purl.org/pav/authoredBy
http://orcid.org/0000-0001-5999-6269
http://rdf.disgenet.org/resource/nanopub/NP677197.RAwXWwgD5KiWkWyeSkPyCFQMRhvxYabWBvPZs7CFkivHs
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-7534-7661
http://rdf.disgenet.org/resource/nanopub/NP677197.RAwXWwgD5KiWkWyeSkPyCFQMRhvxYabWBvPZs7CFkivHs
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-9383-528X
http://rdf.disgenet.org/resource/nanopub/NP677197.RAwXWwgD5KiWkWyeSkPyCFQMRhvxYabWBvPZs7CFkivHs
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP677197.RAwXWwgD5KiWkWyeSkPyCFQMRhvxYabWBvPZs7CFkivHs
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-1244-7654
http://rdf.disgenet.org/resource/nanopub/NP677197.RAwXWwgD5KiWkWyeSkPyCFQMRhvxYabWBvPZs7CFkivHs
http://purl.org/pav/createdBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP677197.RAwXWwgD5KiWkWyeSkPyCFQMRhvxYabWBvPZs7CFkivHs
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