http://rdf.disgenet.org/resource/nanopub/NP613226.RAKr_MtSbsDTH4Oqz-f1FmLdRsoh0zFOWzL5aIA6Ohg_k#head http://rdf.disgenet.org/resource/nanopub/NP613226.RAKr_MtSbsDTH4Oqz-f1FmLdRsoh0zFOWzL5aIA6Ohg_k http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP613226.RAKr_MtSbsDTH4Oqz-f1FmLdRsoh0zFOWzL5aIA6Ohg_k#assertion http://rdf.disgenet.org/resource/nanopub/NP613226.RAKr_MtSbsDTH4Oqz-f1FmLdRsoh0zFOWzL5aIA6Ohg_k http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP613226.RAKr_MtSbsDTH4Oqz-f1FmLdRsoh0zFOWzL5aIA6Ohg_k#provenance http://rdf.disgenet.org/resource/nanopub/NP613226.RAKr_MtSbsDTH4Oqz-f1FmLdRsoh0zFOWzL5aIA6Ohg_k http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP613226.RAKr_MtSbsDTH4Oqz-f1FmLdRsoh0zFOWzL5aIA6Ohg_k#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP613226.RAKr_MtSbsDTH4Oqz-f1FmLdRsoh0zFOWzL5aIA6Ohg_k http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP613226.RAKr_MtSbsDTH4Oqz-f1FmLdRsoh0zFOWzL5aIA6Ohg_k#assertion http://rdf.disgenet.org/resource/gda/DGN40624b07fa3e8977573b5d5579134a5f http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/3738 http://rdf.disgenet.org/resource/gda/DGN40624b07fa3e8977573b5d5579134a5f http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C3279800 http://rdf.disgenet.org/resource/gda/DGN40624b07fa3e8977573b5d5579134a5f http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP613226.RAKr_MtSbsDTH4Oqz-f1FmLdRsoh0zFOWzL5aIA6Ohg_k#provenance http://rdf.disgenet.org/resource/nanopub/NP613226.RAKr_MtSbsDTH4Oqz-f1FmLdRsoh0zFOWzL5aIA6Ohg_k#assertion http://purl.org/dc/terms/description [We sequenced the exomes of three unrelated individuals affected by KPLBS and found de novo heterozygous mutations in KCNJ6 (GIRK2), which encodes an inwardly rectifying potassium channel and maps to the Down syndrome critical region between DIRK1A and DSCR4.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP613226.RAKr_MtSbsDTH4Oqz-f1FmLdRsoh0zFOWzL5aIA6Ohg_k#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/NP613226.RAKr_MtSbsDTH4Oqz-f1FmLdRsoh0zFOWzL5aIA6Ohg_k#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/25620207 http://rdf.disgenet.org/resource/nanopub/NP613226.RAKr_MtSbsDTH4Oqz-f1FmLdRsoh0zFOWzL5aIA6Ohg_k#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP613226.RAKr_MtSbsDTH4Oqz-f1FmLdRsoh0zFOWzL5aIA6Ohg_k#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/NP613226.RAKr_MtSbsDTH4Oqz-f1FmLdRsoh0zFOWzL5aIA6Ohg_k#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP613226.RAKr_MtSbsDTH4Oqz-f1FmLdRsoh0zFOWzL5aIA6Ohg_k http://purl.org/dc/terms/created 2017-10-17T13:14:05+02:00 http://rdf.disgenet.org/resource/nanopub/NP613226.RAKr_MtSbsDTH4Oqz-f1FmLdRsoh0zFOWzL5aIA6Ohg_k http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP613226.RAKr_MtSbsDTH4Oqz-f1FmLdRsoh0zFOWzL5aIA6Ohg_k http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP613226.RAKr_MtSbsDTH4Oqz-f1FmLdRsoh0zFOWzL5aIA6Ohg_k http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP613226.RAKr_MtSbsDTH4Oqz-f1FmLdRsoh0zFOWzL5aIA6Ohg_k http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP613226.RAKr_MtSbsDTH4Oqz-f1FmLdRsoh0zFOWzL5aIA6Ohg_k http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP613226.RAKr_MtSbsDTH4Oqz-f1FmLdRsoh0zFOWzL5aIA6Ohg_k http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP613226.RAKr_MtSbsDTH4Oqz-f1FmLdRsoh0zFOWzL5aIA6Ohg_k http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP613226.RAKr_MtSbsDTH4Oqz-f1FmLdRsoh0zFOWzL5aIA6Ohg_k http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP613226.RAKr_MtSbsDTH4Oqz-f1FmLdRsoh0zFOWzL5aIA6Ohg_k http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP613226.RAKr_MtSbsDTH4Oqz-f1FmLdRsoh0zFOWzL5aIA6Ohg_k http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP613226.RAKr_MtSbsDTH4Oqz-f1FmLdRsoh0zFOWzL5aIA6Ohg_k 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