http://rdf.disgenet.org/resource/nanopub/NP676394.RA3k3ebQ4VOcZT56nVNoABg_B4GYwr0sqkOIiB0iO5dfc#head
http://rdf.disgenet.org/resource/nanopub/NP676394.RA3k3ebQ4VOcZT56nVNoABg_B4GYwr0sqkOIiB0iO5dfc
http://www.nanopub.org/nschema#hasAssertion
http://rdf.disgenet.org/resource/nanopub/NP676394.RA3k3ebQ4VOcZT56nVNoABg_B4GYwr0sqkOIiB0iO5dfc#assertion
http://rdf.disgenet.org/resource/nanopub/NP676394.RA3k3ebQ4VOcZT56nVNoABg_B4GYwr0sqkOIiB0iO5dfc
http://www.nanopub.org/nschema#hasProvenance
http://rdf.disgenet.org/resource/nanopub/NP676394.RA3k3ebQ4VOcZT56nVNoABg_B4GYwr0sqkOIiB0iO5dfc#provenance
http://rdf.disgenet.org/resource/nanopub/NP676394.RA3k3ebQ4VOcZT56nVNoABg_B4GYwr0sqkOIiB0iO5dfc
http://www.nanopub.org/nschema#hasPublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP676394.RA3k3ebQ4VOcZT56nVNoABg_B4GYwr0sqkOIiB0iO5dfc#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP676394.RA3k3ebQ4VOcZT56nVNoABg_B4GYwr0sqkOIiB0iO5dfc
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Nanopublication
http://rdf.disgenet.org/resource/nanopub/NP676394.RA3k3ebQ4VOcZT56nVNoABg_B4GYwr0sqkOIiB0iO5dfc#assertion
http://rdf.disgenet.org/resource/gda/DGNbf397d4e6c409999b3ea094a03f7f8f3
http://semanticscience.org/resource/SIO_000628
http://identifiers.org/ncbigene/4204
http://rdf.disgenet.org/resource/gda/DGNbf397d4e6c409999b3ea094a03f7f8f3
http://semanticscience.org/resource/SIO_000628
http://linkedlifedata.com/resource/umls/id/C0035372
http://rdf.disgenet.org/resource/gda/DGNbf397d4e6c409999b3ea094a03f7f8f3
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://semanticscience.org/resource/SIO_001122
http://rdf.disgenet.org/resource/nanopub/NP676394.RA3k3ebQ4VOcZT56nVNoABg_B4GYwr0sqkOIiB0iO5dfc#provenance
http://rdf.disgenet.org/resource/nanopub/NP676394.RA3k3ebQ4VOcZT56nVNoABg_B4GYwr0sqkOIiB0iO5dfc#assertion
http://purl.org/dc/terms/description
[This review explores the commonalities and differences between autism and RTT at clinical and molecular levels with respect to current status and challenges for each, highlights recent findings from the Rare Disease Network Natural History study on RTT, and summarizes the broad range of phenotypes resulting from mutations in the methyl-CpG-binding protein 2 gene (MECP2), which is responsible for RTT in 95% of individuals with the disorder.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
http://rdf.disgenet.org/resource/nanopub/NP676394.RA3k3ebQ4VOcZT56nVNoABg_B4GYwr0sqkOIiB0iO5dfc#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/NP676394.RA3k3ebQ4VOcZT56nVNoABg_B4GYwr0sqkOIiB0iO5dfc#assertion
http://semanticscience.org/resource/SIO_000772
http://identifiers.org/pubmed/21825235
http://rdf.disgenet.org/resource/nanopub/NP676394.RA3k3ebQ4VOcZT56nVNoABg_B4GYwr0sqkOIiB0iO5dfc#assertion
http://www.w3.org/ns/prov#wasDerivedFrom
http://rdf.disgenet.org/v5.0.0/void/BEFREE
http://rdf.disgenet.org/resource/nanopub/NP676394.RA3k3ebQ4VOcZT56nVNoABg_B4GYwr0sqkOIiB0iO5dfc#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/NP676394.RA3k3ebQ4VOcZT56nVNoABg_B4GYwr0sqkOIiB0iO5dfc#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP676394.RA3k3ebQ4VOcZT56nVNoABg_B4GYwr0sqkOIiB0iO5dfc
http://purl.org/dc/terms/created
2017-10-17T13:14:29+02:00
http://rdf.disgenet.org/resource/nanopub/NP676394.RA3k3ebQ4VOcZT56nVNoABg_B4GYwr0sqkOIiB0iO5dfc
http://purl.org/dc/terms/rights
http://opendatacommons.org/licenses/odbl/1.0/
http://rdf.disgenet.org/resource/nanopub/NP676394.RA3k3ebQ4VOcZT56nVNoABg_B4GYwr0sqkOIiB0iO5dfc
http://purl.org/dc/terms/rightsHolder
http://rdf.disgenet.org/v5.0.0/void/IBIGroup
http://rdf.disgenet.org/resource/nanopub/NP676394.RA3k3ebQ4VOcZT56nVNoABg_B4GYwr0sqkOIiB0iO5dfc
http://purl.org/dc/terms/subject
http://semanticscience.org/resource/SIO_000983
http://rdf.disgenet.org/resource/nanopub/NP676394.RA3k3ebQ4VOcZT56nVNoABg_B4GYwr0sqkOIiB0iO5dfc
http://purl.org/net/provenance/ns#usedData
http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf
http://rdf.disgenet.org/resource/nanopub/NP676394.RA3k3ebQ4VOcZT56nVNoABg_B4GYwr0sqkOIiB0iO5dfc
http://purl.org/pav/authoredBy
http://orcid.org/0000-0001-5999-6269
http://rdf.disgenet.org/resource/nanopub/NP676394.RA3k3ebQ4VOcZT56nVNoABg_B4GYwr0sqkOIiB0iO5dfc
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-7534-7661
http://rdf.disgenet.org/resource/nanopub/NP676394.RA3k3ebQ4VOcZT56nVNoABg_B4GYwr0sqkOIiB0iO5dfc
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-9383-528X
http://rdf.disgenet.org/resource/nanopub/NP676394.RA3k3ebQ4VOcZT56nVNoABg_B4GYwr0sqkOIiB0iO5dfc
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP676394.RA3k3ebQ4VOcZT56nVNoABg_B4GYwr0sqkOIiB0iO5dfc
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-1244-7654
http://rdf.disgenet.org/resource/nanopub/NP676394.RA3k3ebQ4VOcZT56nVNoABg_B4GYwr0sqkOIiB0iO5dfc
http://purl.org/pav/createdBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP676394.RA3k3ebQ4VOcZT56nVNoABg_B4GYwr0sqkOIiB0iO5dfc
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