http://rdf.disgenet.org/resource/nanopub/NP841036.RANLQKZgnigJRdrPu7osas3oBvM3ZtjIIEpJoOTAG7BsU130_head
http://rdf.disgenet.org/resource/nanopub/NP841036.RANLQKZgnigJRdrPu7osas3oBvM3ZtjIIEpJoOTAG7BsU
http://www.nanopub.org/nschema#hasAssertion
http://rdf.disgenet.org/resource/nanopub/NP841036.RANLQKZgnigJRdrPu7osas3oBvM3ZtjIIEpJoOTAG7BsU130_assertion
http://rdf.disgenet.org/resource/nanopub/NP841036.RANLQKZgnigJRdrPu7osas3oBvM3ZtjIIEpJoOTAG7BsU
http://www.nanopub.org/nschema#hasProvenance
http://rdf.disgenet.org/resource/nanopub/NP841036.RANLQKZgnigJRdrPu7osas3oBvM3ZtjIIEpJoOTAG7BsU130_provenance
http://rdf.disgenet.org/resource/nanopub/NP841036.RANLQKZgnigJRdrPu7osas3oBvM3ZtjIIEpJoOTAG7BsU
http://www.nanopub.org/nschema#hasPublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP841036.RANLQKZgnigJRdrPu7osas3oBvM3ZtjIIEpJoOTAG7BsU130_publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP841036.RANLQKZgnigJRdrPu7osas3oBvM3ZtjIIEpJoOTAG7BsU
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Nanopublication
http://rdf.disgenet.org/resource/nanopub/NP841036.RANLQKZgnigJRdrPu7osas3oBvM3ZtjIIEpJoOTAG7BsU130_assertion
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Assertion
http://rdf.disgenet.org/resource/nanopub/NP841036.RANLQKZgnigJRdrPu7osas3oBvM3ZtjIIEpJoOTAG7BsU130_provenance
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Provenance
http://rdf.disgenet.org/resource/nanopub/NP841036.RANLQKZgnigJRdrPu7osas3oBvM3ZtjIIEpJoOTAG7BsU130_publicationInfo
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#PublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP841036.RANLQKZgnigJRdrPu7osas3oBvM3ZtjIIEpJoOTAG7BsU130_assertion
http://identifiers.org/ncbigene/4204
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C16612
http://linkedlifedata.com/resource/umls/id/C0085584
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C7057
http://rdf.disgenet.org/resource/gda/DGN108daf46c59784106e7b4be8efc6ffaa
http://semanticscience.org/resource/SIO_000628
http://identifiers.org/ncbigene/4204
http://rdf.disgenet.org/resource/gda/DGN108daf46c59784106e7b4be8efc6ffaa
http://semanticscience.org/resource/SIO_000628
http://linkedlifedata.com/resource/umls/id/C0085584
http://rdf.disgenet.org/resource/gda/DGN108daf46c59784106e7b4be8efc6ffaa
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://semanticscience.org/resource/SIO_001121
http://rdf.disgenet.org/resource/nanopub/NP841036.RANLQKZgnigJRdrPu7osas3oBvM3ZtjIIEpJoOTAG7BsU130_provenance
http://rdf.disgenet.org/resource/nanopub/NP841036.RANLQKZgnigJRdrPu7osas3oBvM3ZtjIIEpJoOTAG7BsU130_assertion
http://purl.org/dc/terms/description
[While the encephalopathy has been traditionally attributed to the MECP2 gene duplication in patients with Lubs syndrome, here we propose that the enteric phenotype in our patient might be due to the dosage variation of the L1CAM protein, together with additional molecular events not identified yet.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
http://rdf.disgenet.org/resource/nanopub/NP841036.RANLQKZgnigJRdrPu7osas3oBvM3ZtjIIEpJoOTAG7BsU130_assertion
http://purl.org/ontology/wi/core#evidence
http://rdf.disgenet.org/v4.0.0/void/source_evidence_literature
http://rdf.disgenet.org/resource/nanopub/NP841036.RANLQKZgnigJRdrPu7osas3oBvM3ZtjIIEpJoOTAG7BsU130_assertion
http://semanticscience.org/resource/SIO_000772
http://identifiers.org/pubmed/20860806
http://rdf.disgenet.org/resource/nanopub/NP841036.RANLQKZgnigJRdrPu7osas3oBvM3ZtjIIEpJoOTAG7BsU130_assertion
http://www.w3.org/ns/prov#wasDerivedFrom
http://rdf.disgenet.org/v4.0.0/void/befree-2016
http://rdf.disgenet.org/resource/nanopub/NP841036.RANLQKZgnigJRdrPu7osas3oBvM3ZtjIIEpJoOTAG7BsU130_assertion
http://www.w3.org/ns/prov#wasGeneratedBy
http://purl.obolibrary.org/obo/ECO_0000203
http://rdf.disgenet.org/v4.0.0/void/befree-2016
http://purl.org/pav/importedOn
2016-02-19
http://rdf.disgenet.org/v4.0.0/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/v4.0.0/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/v4.0.0/void/source_evidence_literature
http://www.w3.org/2000/01/rdf-schema#label
DisGeNET evidence - LITERATURE
http://rdf.disgenet.org/resource/nanopub/NP841036.RANLQKZgnigJRdrPu7osas3oBvM3ZtjIIEpJoOTAG7BsU130_publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP841036.RANLQKZgnigJRdrPu7osas3oBvM3ZtjIIEpJoOTAG7BsU
http://purl.org/dc/terms/created
2016-05-13T12:48:06+02:00
http://rdf.disgenet.org/resource/nanopub/NP841036.RANLQKZgnigJRdrPu7osas3oBvM3ZtjIIEpJoOTAG7BsU
http://purl.org/dc/terms/rights
http://opendatacommons.org/licenses/odbl/1.0/
http://rdf.disgenet.org/resource/nanopub/NP841036.RANLQKZgnigJRdrPu7osas3oBvM3ZtjIIEpJoOTAG7BsU
http://purl.org/dc/terms/rightsHolder
http://rdf.disgenet.org/v4.0.0/void/IBIGroup
http://rdf.disgenet.org/resource/nanopub/NP841036.RANLQKZgnigJRdrPu7osas3oBvM3ZtjIIEpJoOTAG7BsU
http://purl.org/dc/terms/subject
http://semanticscience.org/resource/SIO_000983
http://rdf.disgenet.org/resource/nanopub/NP841036.RANLQKZgnigJRdrPu7osas3oBvM3ZtjIIEpJoOTAG7BsU
http://purl.org/net/provenance/ns#usedData
http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf
http://rdf.disgenet.org/resource/nanopub/NP841036.RANLQKZgnigJRdrPu7osas3oBvM3ZtjIIEpJoOTAG7BsU
http://purl.org/pav/authoredBy
http://orcid.org/0000-0001-5999-6269
http://rdf.disgenet.org/resource/nanopub/NP841036.RANLQKZgnigJRdrPu7osas3oBvM3ZtjIIEpJoOTAG7BsU
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-7534-7661
http://rdf.disgenet.org/resource/nanopub/NP841036.RANLQKZgnigJRdrPu7osas3oBvM3ZtjIIEpJoOTAG7BsU
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-9383-528X
http://rdf.disgenet.org/resource/nanopub/NP841036.RANLQKZgnigJRdrPu7osas3oBvM3ZtjIIEpJoOTAG7BsU
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP841036.RANLQKZgnigJRdrPu7osas3oBvM3ZtjIIEpJoOTAG7BsU
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-1244-7654
http://rdf.disgenet.org/resource/nanopub/NP841036.RANLQKZgnigJRdrPu7osas3oBvM3ZtjIIEpJoOTAG7BsU
http://purl.org/pav/createdBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP841036.RANLQKZgnigJRdrPu7osas3oBvM3ZtjIIEpJoOTAG7BsU
http://purl.org/pav/version
v4.0.0.0
http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf
http://purl.org/pav/version
v4.0.0