http://rdf.disgenet.org/resource/nanopub/NP973715.RAOxsoA1ar4KVez8-YS2bI45fhJy1rXmvmLGL6lOOpL5Q#head
http://rdf.disgenet.org/resource/nanopub/NP973715.RAOxsoA1ar4KVez8-YS2bI45fhJy1rXmvmLGL6lOOpL5Q
http://www.nanopub.org/nschema#hasAssertion
http://rdf.disgenet.org/resource/nanopub/NP973715.RAOxsoA1ar4KVez8-YS2bI45fhJy1rXmvmLGL6lOOpL5Q#assertion
http://rdf.disgenet.org/resource/nanopub/NP973715.RAOxsoA1ar4KVez8-YS2bI45fhJy1rXmvmLGL6lOOpL5Q
http://www.nanopub.org/nschema#hasProvenance
http://rdf.disgenet.org/resource/nanopub/NP973715.RAOxsoA1ar4KVez8-YS2bI45fhJy1rXmvmLGL6lOOpL5Q#provenance
http://rdf.disgenet.org/resource/nanopub/NP973715.RAOxsoA1ar4KVez8-YS2bI45fhJy1rXmvmLGL6lOOpL5Q
http://www.nanopub.org/nschema#hasPublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP973715.RAOxsoA1ar4KVez8-YS2bI45fhJy1rXmvmLGL6lOOpL5Q#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP973715.RAOxsoA1ar4KVez8-YS2bI45fhJy1rXmvmLGL6lOOpL5Q
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Nanopublication
http://rdf.disgenet.org/resource/nanopub/NP973715.RAOxsoA1ar4KVez8-YS2bI45fhJy1rXmvmLGL6lOOpL5Q#assertion
http://rdf.disgenet.org/resource/gda/DGNd2c6b57a553aca8e7df7590b290a0465
http://semanticscience.org/resource/SIO_000628
http://identifiers.org/ncbigene/6663
http://rdf.disgenet.org/resource/gda/DGNd2c6b57a553aca8e7df7590b290a0465
http://semanticscience.org/resource/SIO_000628
http://linkedlifedata.com/resource/umls/id/C0027765
http://rdf.disgenet.org/resource/gda/DGNd2c6b57a553aca8e7df7590b290a0465
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://semanticscience.org/resource/SIO_001122
http://rdf.disgenet.org/resource/nanopub/NP973715.RAOxsoA1ar4KVez8-YS2bI45fhJy1rXmvmLGL6lOOpL5Q#provenance
http://rdf.disgenet.org/resource/nanopub/NP973715.RAOxsoA1ar4KVez8-YS2bI45fhJy1rXmvmLGL6lOOpL5Q#assertion
http://purl.org/dc/terms/description
[While the lack of normal SOX10 mediated activation of RET transcription may lead to intestinal aganglionosis, overexpression of genes coding for structural myelin proteins such as P0 due to mutant SOX10 may explain the dysmyelination phenotype observed in the patients with an additional neurological disorder.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
http://rdf.disgenet.org/resource/nanopub/NP973715.RAOxsoA1ar4KVez8-YS2bI45fhJy1rXmvmLGL6lOOpL5Q#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/NP973715.RAOxsoA1ar4KVez8-YS2bI45fhJy1rXmvmLGL6lOOpL5Q#assertion
http://semanticscience.org/resource/SIO_000772
http://identifiers.org/pubmed/14523991
http://rdf.disgenet.org/resource/nanopub/NP973715.RAOxsoA1ar4KVez8-YS2bI45fhJy1rXmvmLGL6lOOpL5Q#assertion
http://www.w3.org/ns/prov#wasDerivedFrom
http://rdf.disgenet.org/v5.0.0/void/BEFREE
http://rdf.disgenet.org/resource/nanopub/NP973715.RAOxsoA1ar4KVez8-YS2bI45fhJy1rXmvmLGL6lOOpL5Q#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/NP973715.RAOxsoA1ar4KVez8-YS2bI45fhJy1rXmvmLGL6lOOpL5Q#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP973715.RAOxsoA1ar4KVez8-YS2bI45fhJy1rXmvmLGL6lOOpL5Q
http://purl.org/dc/terms/created
2017-10-17T13:16:23+02:00
http://rdf.disgenet.org/resource/nanopub/NP973715.RAOxsoA1ar4KVez8-YS2bI45fhJy1rXmvmLGL6lOOpL5Q
http://purl.org/dc/terms/rights
http://opendatacommons.org/licenses/odbl/1.0/
http://rdf.disgenet.org/resource/nanopub/NP973715.RAOxsoA1ar4KVez8-YS2bI45fhJy1rXmvmLGL6lOOpL5Q
http://purl.org/dc/terms/rightsHolder
http://rdf.disgenet.org/v5.0.0/void/IBIGroup
http://rdf.disgenet.org/resource/nanopub/NP973715.RAOxsoA1ar4KVez8-YS2bI45fhJy1rXmvmLGL6lOOpL5Q
http://purl.org/dc/terms/subject
http://semanticscience.org/resource/SIO_000983
http://rdf.disgenet.org/resource/nanopub/NP973715.RAOxsoA1ar4KVez8-YS2bI45fhJy1rXmvmLGL6lOOpL5Q
http://purl.org/net/provenance/ns#usedData
http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf
http://rdf.disgenet.org/resource/nanopub/NP973715.RAOxsoA1ar4KVez8-YS2bI45fhJy1rXmvmLGL6lOOpL5Q
http://purl.org/pav/authoredBy
http://orcid.org/0000-0001-5999-6269
http://rdf.disgenet.org/resource/nanopub/NP973715.RAOxsoA1ar4KVez8-YS2bI45fhJy1rXmvmLGL6lOOpL5Q
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-7534-7661
http://rdf.disgenet.org/resource/nanopub/NP973715.RAOxsoA1ar4KVez8-YS2bI45fhJy1rXmvmLGL6lOOpL5Q
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-9383-528X
http://rdf.disgenet.org/resource/nanopub/NP973715.RAOxsoA1ar4KVez8-YS2bI45fhJy1rXmvmLGL6lOOpL5Q
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP973715.RAOxsoA1ar4KVez8-YS2bI45fhJy1rXmvmLGL6lOOpL5Q
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-1244-7654
http://rdf.disgenet.org/resource/nanopub/NP973715.RAOxsoA1ar4KVez8-YS2bI45fhJy1rXmvmLGL6lOOpL5Q
http://purl.org/pav/createdBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP973715.RAOxsoA1ar4KVez8-YS2bI45fhJy1rXmvmLGL6lOOpL5Q
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