http://rdf.disgenet.org/resource/nanopub/NP1017750.RAZc1VE8SKmUjw0uTpi_jSbFKdoJlNwoYR9zS1cRpmRBU#head
http://rdf.disgenet.org/resource/nanopub/NP1017750.RAZc1VE8SKmUjw0uTpi_jSbFKdoJlNwoYR9zS1cRpmRBU
http://www.nanopub.org/nschema#hasAssertion
http://rdf.disgenet.org/resource/nanopub/NP1017750.RAZc1VE8SKmUjw0uTpi_jSbFKdoJlNwoYR9zS1cRpmRBU#assertion
http://rdf.disgenet.org/resource/nanopub/NP1017750.RAZc1VE8SKmUjw0uTpi_jSbFKdoJlNwoYR9zS1cRpmRBU
http://www.nanopub.org/nschema#hasProvenance
http://rdf.disgenet.org/resource/nanopub/NP1017750.RAZc1VE8SKmUjw0uTpi_jSbFKdoJlNwoYR9zS1cRpmRBU#provenance
http://rdf.disgenet.org/resource/nanopub/NP1017750.RAZc1VE8SKmUjw0uTpi_jSbFKdoJlNwoYR9zS1cRpmRBU
http://www.nanopub.org/nschema#hasPublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP1017750.RAZc1VE8SKmUjw0uTpi_jSbFKdoJlNwoYR9zS1cRpmRBU#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP1017750.RAZc1VE8SKmUjw0uTpi_jSbFKdoJlNwoYR9zS1cRpmRBU
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Nanopublication
http://rdf.disgenet.org/resource/nanopub/NP1017750.RAZc1VE8SKmUjw0uTpi_jSbFKdoJlNwoYR9zS1cRpmRBU#assertion
http://rdf.disgenet.org/resource/gda/DGN25f63f051ef0e9ded650746c2a1cee92
http://semanticscience.org/resource/SIO_000628
http://identifiers.org/ncbigene/7046
http://rdf.disgenet.org/resource/gda/DGN25f63f051ef0e9ded650746c2a1cee92
http://semanticscience.org/resource/SIO_000628
http://linkedlifedata.com/resource/umls/id/C0004364
http://rdf.disgenet.org/resource/gda/DGN25f63f051ef0e9ded650746c2a1cee92
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://semanticscience.org/resource/SIO_001122
http://rdf.disgenet.org/resource/nanopub/NP1017750.RAZc1VE8SKmUjw0uTpi_jSbFKdoJlNwoYR9zS1cRpmRBU#provenance
http://rdf.disgenet.org/resource/nanopub/NP1017750.RAZc1VE8SKmUjw0uTpi_jSbFKdoJlNwoYR9zS1cRpmRBU#assertion
http://purl.org/dc/terms/description
[Most notably, we demonstrate that the C77G polymorphism, which correlates with autoimmune disease susceptibility in humans, disrupts exon silencing by preventing the redundant activity of hnRNPs K and E2 to compensate for the weakened function of hnRNP L. Therefore, these studies provide an important example of the functional relevance of combinatorial function in splicing regulation and suggest that additional polymorphisms may similarly disrupt function of the ESS1 silencer.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
http://rdf.disgenet.org/resource/nanopub/NP1017750.RAZc1VE8SKmUjw0uTpi_jSbFKdoJlNwoYR9zS1cRpmRBU#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/NP1017750.RAZc1VE8SKmUjw0uTpi_jSbFKdoJlNwoYR9zS1cRpmRBU#assertion
http://semanticscience.org/resource/SIO_000772
http://identifiers.org/pubmed/21507955
http://rdf.disgenet.org/resource/nanopub/NP1017750.RAZc1VE8SKmUjw0uTpi_jSbFKdoJlNwoYR9zS1cRpmRBU#assertion
http://www.w3.org/ns/prov#wasDerivedFrom
http://rdf.disgenet.org/v5.0.0/void/BEFREE
http://rdf.disgenet.org/resource/nanopub/NP1017750.RAZc1VE8SKmUjw0uTpi_jSbFKdoJlNwoYR9zS1cRpmRBU#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/NP1017750.RAZc1VE8SKmUjw0uTpi_jSbFKdoJlNwoYR9zS1cRpmRBU#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP1017750.RAZc1VE8SKmUjw0uTpi_jSbFKdoJlNwoYR9zS1cRpmRBU
http://purl.org/dc/terms/created
2017-10-17T13:16:41+02:00
http://rdf.disgenet.org/resource/nanopub/NP1017750.RAZc1VE8SKmUjw0uTpi_jSbFKdoJlNwoYR9zS1cRpmRBU
http://purl.org/dc/terms/rights
http://opendatacommons.org/licenses/odbl/1.0/
http://rdf.disgenet.org/resource/nanopub/NP1017750.RAZc1VE8SKmUjw0uTpi_jSbFKdoJlNwoYR9zS1cRpmRBU
http://purl.org/dc/terms/rightsHolder
http://rdf.disgenet.org/v5.0.0/void/IBIGroup
http://rdf.disgenet.org/resource/nanopub/NP1017750.RAZc1VE8SKmUjw0uTpi_jSbFKdoJlNwoYR9zS1cRpmRBU
http://purl.org/dc/terms/subject
http://semanticscience.org/resource/SIO_000983
http://rdf.disgenet.org/resource/nanopub/NP1017750.RAZc1VE8SKmUjw0uTpi_jSbFKdoJlNwoYR9zS1cRpmRBU
http://purl.org/net/provenance/ns#usedData
http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf
http://rdf.disgenet.org/resource/nanopub/NP1017750.RAZc1VE8SKmUjw0uTpi_jSbFKdoJlNwoYR9zS1cRpmRBU
http://purl.org/pav/authoredBy
http://orcid.org/0000-0001-5999-6269
http://rdf.disgenet.org/resource/nanopub/NP1017750.RAZc1VE8SKmUjw0uTpi_jSbFKdoJlNwoYR9zS1cRpmRBU
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-7534-7661
http://rdf.disgenet.org/resource/nanopub/NP1017750.RAZc1VE8SKmUjw0uTpi_jSbFKdoJlNwoYR9zS1cRpmRBU
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-9383-528X
http://rdf.disgenet.org/resource/nanopub/NP1017750.RAZc1VE8SKmUjw0uTpi_jSbFKdoJlNwoYR9zS1cRpmRBU
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP1017750.RAZc1VE8SKmUjw0uTpi_jSbFKdoJlNwoYR9zS1cRpmRBU
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-1244-7654
http://rdf.disgenet.org/resource/nanopub/NP1017750.RAZc1VE8SKmUjw0uTpi_jSbFKdoJlNwoYR9zS1cRpmRBU
http://purl.org/pav/createdBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP1017750.RAZc1VE8SKmUjw0uTpi_jSbFKdoJlNwoYR9zS1cRpmRBU
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