http://rdf.disgenet.org/resource/nanopub/NP418802.RAoqNxxxi-C30QcNw90B03ke9UhBwvg7ILuBqT3r1Yvqs#head
http://rdf.disgenet.org/resource/nanopub/NP418802.RAoqNxxxi-C30QcNw90B03ke9UhBwvg7ILuBqT3r1Yvqs
http://www.nanopub.org/nschema#hasAssertion
http://rdf.disgenet.org/resource/nanopub/NP418802.RAoqNxxxi-C30QcNw90B03ke9UhBwvg7ILuBqT3r1Yvqs#assertion
http://rdf.disgenet.org/resource/nanopub/NP418802.RAoqNxxxi-C30QcNw90B03ke9UhBwvg7ILuBqT3r1Yvqs
http://www.nanopub.org/nschema#hasProvenance
http://rdf.disgenet.org/resource/nanopub/NP418802.RAoqNxxxi-C30QcNw90B03ke9UhBwvg7ILuBqT3r1Yvqs#provenance
http://rdf.disgenet.org/resource/nanopub/NP418802.RAoqNxxxi-C30QcNw90B03ke9UhBwvg7ILuBqT3r1Yvqs
http://www.nanopub.org/nschema#hasPublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP418802.RAoqNxxxi-C30QcNw90B03ke9UhBwvg7ILuBqT3r1Yvqs#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP418802.RAoqNxxxi-C30QcNw90B03ke9UhBwvg7ILuBqT3r1Yvqs
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Nanopublication
http://rdf.disgenet.org/resource/nanopub/NP418802.RAoqNxxxi-C30QcNw90B03ke9UhBwvg7ILuBqT3r1Yvqs#assertion
http://rdf.disgenet.org/resource/gda/DGN480fabaa2f7a1ec19d0e7fec101ff49a
http://semanticscience.org/resource/SIO_000628
http://identifiers.org/ncbigene/2477
http://rdf.disgenet.org/resource/gda/DGN480fabaa2f7a1ec19d0e7fec101ff49a
http://semanticscience.org/resource/SIO_000628
http://linkedlifedata.com/resource/umls/id/C3714756
http://rdf.disgenet.org/resource/gda/DGN480fabaa2f7a1ec19d0e7fec101ff49a
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://semanticscience.org/resource/SIO_001122
http://rdf.disgenet.org/resource/nanopub/NP418802.RAoqNxxxi-C30QcNw90B03ke9UhBwvg7ILuBqT3r1Yvqs#provenance
http://rdf.disgenet.org/resource/nanopub/NP418802.RAoqNxxxi-C30QcNw90B03ke9UhBwvg7ILuBqT3r1Yvqs#assertion
http://purl.org/dc/terms/description
[In view of these data, we screened MECP2 in a cohort of 185 patients found negative for the expansions across the FRAXA CGG repeat and reported the identification of mutations in four sporadic cases of MR. One of the mutations, A140V, which we found in two patients, has been described previously, whereas the two others, P399L and R453Q, are novel mutations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
http://rdf.disgenet.org/resource/nanopub/NP418802.RAoqNxxxi-C30QcNw90B03ke9UhBwvg7ILuBqT3r1Yvqs#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/NP418802.RAoqNxxxi-C30QcNw90B03ke9UhBwvg7ILuBqT3r1Yvqs#assertion
http://semanticscience.org/resource/SIO_000772
http://identifiers.org/pubmed/11309367
http://rdf.disgenet.org/resource/nanopub/NP418802.RAoqNxxxi-C30QcNw90B03ke9UhBwvg7ILuBqT3r1Yvqs#assertion
http://www.w3.org/ns/prov#wasDerivedFrom
http://rdf.disgenet.org/v5.0.0/void/BEFREE
http://rdf.disgenet.org/resource/nanopub/NP418802.RAoqNxxxi-C30QcNw90B03ke9UhBwvg7ILuBqT3r1Yvqs#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/NP418802.RAoqNxxxi-C30QcNw90B03ke9UhBwvg7ILuBqT3r1Yvqs#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP418802.RAoqNxxxi-C30QcNw90B03ke9UhBwvg7ILuBqT3r1Yvqs
http://purl.org/dc/terms/created
2017-10-17T13:12:50+02:00
http://rdf.disgenet.org/resource/nanopub/NP418802.RAoqNxxxi-C30QcNw90B03ke9UhBwvg7ILuBqT3r1Yvqs
http://purl.org/dc/terms/rights
http://opendatacommons.org/licenses/odbl/1.0/
http://rdf.disgenet.org/resource/nanopub/NP418802.RAoqNxxxi-C30QcNw90B03ke9UhBwvg7ILuBqT3r1Yvqs
http://purl.org/dc/terms/rightsHolder
http://rdf.disgenet.org/v5.0.0/void/IBIGroup
http://rdf.disgenet.org/resource/nanopub/NP418802.RAoqNxxxi-C30QcNw90B03ke9UhBwvg7ILuBqT3r1Yvqs
http://purl.org/dc/terms/subject
http://semanticscience.org/resource/SIO_000983
http://rdf.disgenet.org/resource/nanopub/NP418802.RAoqNxxxi-C30QcNw90B03ke9UhBwvg7ILuBqT3r1Yvqs
http://purl.org/net/provenance/ns#usedData
http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf
http://rdf.disgenet.org/resource/nanopub/NP418802.RAoqNxxxi-C30QcNw90B03ke9UhBwvg7ILuBqT3r1Yvqs
http://purl.org/pav/authoredBy
http://orcid.org/0000-0001-5999-6269
http://rdf.disgenet.org/resource/nanopub/NP418802.RAoqNxxxi-C30QcNw90B03ke9UhBwvg7ILuBqT3r1Yvqs
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-7534-7661
http://rdf.disgenet.org/resource/nanopub/NP418802.RAoqNxxxi-C30QcNw90B03ke9UhBwvg7ILuBqT3r1Yvqs
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-9383-528X
http://rdf.disgenet.org/resource/nanopub/NP418802.RAoqNxxxi-C30QcNw90B03ke9UhBwvg7ILuBqT3r1Yvqs
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP418802.RAoqNxxxi-C30QcNw90B03ke9UhBwvg7ILuBqT3r1Yvqs
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-1244-7654
http://rdf.disgenet.org/resource/nanopub/NP418802.RAoqNxxxi-C30QcNw90B03ke9UhBwvg7ILuBqT3r1Yvqs
http://purl.org/pav/createdBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP418802.RAoqNxxxi-C30QcNw90B03ke9UhBwvg7ILuBqT3r1Yvqs
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