http://rdf.disgenet.org/resource/nanopub/NP87567.RA-iQTyuARY3tjAqGHTfoghR008tVRhuG9ndEnBVPHP4k#head
http://rdf.disgenet.org/resource/nanopub/NP87567.RA-iQTyuARY3tjAqGHTfoghR008tVRhuG9ndEnBVPHP4k
http://www.nanopub.org/nschema#hasAssertion
http://rdf.disgenet.org/resource/nanopub/NP87567.RA-iQTyuARY3tjAqGHTfoghR008tVRhuG9ndEnBVPHP4k#assertion
http://rdf.disgenet.org/resource/nanopub/NP87567.RA-iQTyuARY3tjAqGHTfoghR008tVRhuG9ndEnBVPHP4k
http://www.nanopub.org/nschema#hasProvenance
http://rdf.disgenet.org/resource/nanopub/NP87567.RA-iQTyuARY3tjAqGHTfoghR008tVRhuG9ndEnBVPHP4k#provenance
http://rdf.disgenet.org/resource/nanopub/NP87567.RA-iQTyuARY3tjAqGHTfoghR008tVRhuG9ndEnBVPHP4k
http://www.nanopub.org/nschema#hasPublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP87567.RA-iQTyuARY3tjAqGHTfoghR008tVRhuG9ndEnBVPHP4k#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP87567.RA-iQTyuARY3tjAqGHTfoghR008tVRhuG9ndEnBVPHP4k
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Nanopublication
http://rdf.disgenet.org/resource/nanopub/NP87567.RA-iQTyuARY3tjAqGHTfoghR008tVRhuG9ndEnBVPHP4k#assertion
http://rdf.disgenet.org/resource/gda/DGNb66e2e273d6dc3b6b3bec642ea3c42df
http://semanticscience.org/resource/SIO_000628
http://identifiers.org/ncbigene/412
http://rdf.disgenet.org/resource/gda/DGNb66e2e273d6dc3b6b3bec642ea3c42df
http://semanticscience.org/resource/SIO_000628
http://linkedlifedata.com/resource/umls/id/C0079588
http://rdf.disgenet.org/resource/gda/DGNb66e2e273d6dc3b6b3bec642ea3c42df
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://semanticscience.org/resource/SIO_001123
http://rdf.disgenet.org/resource/nanopub/NP87567.RA-iQTyuARY3tjAqGHTfoghR008tVRhuG9ndEnBVPHP4k#provenance
http://rdf.disgenet.org/resource/nanopub/NP87567.RA-iQTyuARY3tjAqGHTfoghR008tVRhuG9ndEnBVPHP4k#assertion
http://purl.org/dc/terms/description
[This data corroborated that most sporadic cases do not represent de novo mutations, and that FISH must be included in the analysis of mothers of sporadic cases when they present with normal STS activity, in order to correctly diagnose the XLI carrier state.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
http://rdf.disgenet.org/resource/nanopub/NP87567.RA-iQTyuARY3tjAqGHTfoghR008tVRhuG9ndEnBVPHP4k#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/NP87567.RA-iQTyuARY3tjAqGHTfoghR008tVRhuG9ndEnBVPHP4k#assertion
http://semanticscience.org/resource/SIO_000772
http://identifiers.org/pubmed/11477606
http://rdf.disgenet.org/resource/nanopub/NP87567.RA-iQTyuARY3tjAqGHTfoghR008tVRhuG9ndEnBVPHP4k#assertion
http://www.w3.org/ns/prov#wasDerivedFrom
http://rdf.disgenet.org/v5.0.0/void/BEFREE
http://rdf.disgenet.org/resource/nanopub/NP87567.RA-iQTyuARY3tjAqGHTfoghR008tVRhuG9ndEnBVPHP4k#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/NP87567.RA-iQTyuARY3tjAqGHTfoghR008tVRhuG9ndEnBVPHP4k#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP87567.RA-iQTyuARY3tjAqGHTfoghR008tVRhuG9ndEnBVPHP4k
http://purl.org/dc/terms/created
2017-10-17T13:10:45+02:00
http://rdf.disgenet.org/resource/nanopub/NP87567.RA-iQTyuARY3tjAqGHTfoghR008tVRhuG9ndEnBVPHP4k
http://purl.org/dc/terms/rights
http://opendatacommons.org/licenses/odbl/1.0/
http://rdf.disgenet.org/resource/nanopub/NP87567.RA-iQTyuARY3tjAqGHTfoghR008tVRhuG9ndEnBVPHP4k
http://purl.org/dc/terms/rightsHolder
http://rdf.disgenet.org/v5.0.0/void/IBIGroup
http://rdf.disgenet.org/resource/nanopub/NP87567.RA-iQTyuARY3tjAqGHTfoghR008tVRhuG9ndEnBVPHP4k
http://purl.org/dc/terms/subject
http://semanticscience.org/resource/SIO_000983
http://rdf.disgenet.org/resource/nanopub/NP87567.RA-iQTyuARY3tjAqGHTfoghR008tVRhuG9ndEnBVPHP4k
http://purl.org/net/provenance/ns#usedData
http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf
http://rdf.disgenet.org/resource/nanopub/NP87567.RA-iQTyuARY3tjAqGHTfoghR008tVRhuG9ndEnBVPHP4k
http://purl.org/pav/authoredBy
http://orcid.org/0000-0001-5999-6269
http://rdf.disgenet.org/resource/nanopub/NP87567.RA-iQTyuARY3tjAqGHTfoghR008tVRhuG9ndEnBVPHP4k
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-7534-7661
http://rdf.disgenet.org/resource/nanopub/NP87567.RA-iQTyuARY3tjAqGHTfoghR008tVRhuG9ndEnBVPHP4k
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-9383-528X
http://rdf.disgenet.org/resource/nanopub/NP87567.RA-iQTyuARY3tjAqGHTfoghR008tVRhuG9ndEnBVPHP4k
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP87567.RA-iQTyuARY3tjAqGHTfoghR008tVRhuG9ndEnBVPHP4k
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-1244-7654
http://rdf.disgenet.org/resource/nanopub/NP87567.RA-iQTyuARY3tjAqGHTfoghR008tVRhuG9ndEnBVPHP4k
http://purl.org/pav/createdBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP87567.RA-iQTyuARY3tjAqGHTfoghR008tVRhuG9ndEnBVPHP4k
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