http://rdf.disgenet.org/resource/nanopub/NP1168381.RAiWYdfVIVNGia9IMl24aL9z4lEb1l1IcmdYfPf5UkR38#head http://rdf.disgenet.org/resource/nanopub/NP1168381.RAiWYdfVIVNGia9IMl24aL9z4lEb1l1IcmdYfPf5UkR38 http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP1168381.RAiWYdfVIVNGia9IMl24aL9z4lEb1l1IcmdYfPf5UkR38#assertion http://rdf.disgenet.org/resource/nanopub/NP1168381.RAiWYdfVIVNGia9IMl24aL9z4lEb1l1IcmdYfPf5UkR38 http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP1168381.RAiWYdfVIVNGia9IMl24aL9z4lEb1l1IcmdYfPf5UkR38#provenance http://rdf.disgenet.org/resource/nanopub/NP1168381.RAiWYdfVIVNGia9IMl24aL9z4lEb1l1IcmdYfPf5UkR38 http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP1168381.RAiWYdfVIVNGia9IMl24aL9z4lEb1l1IcmdYfPf5UkR38#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1168381.RAiWYdfVIVNGia9IMl24aL9z4lEb1l1IcmdYfPf5UkR38 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP1168381.RAiWYdfVIVNGia9IMl24aL9z4lEb1l1IcmdYfPf5UkR38#assertion http://rdf.disgenet.org/resource/gda/DGN6b51394541d120e923a9635e77972490 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/8929 http://rdf.disgenet.org/resource/gda/DGN6b51394541d120e923a9635e77972490 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C1275808 http://rdf.disgenet.org/resource/gda/DGN6b51394541d120e923a9635e77972490 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP1168381.RAiWYdfVIVNGia9IMl24aL9z4lEb1l1IcmdYfPf5UkR38#provenance http://rdf.disgenet.org/resource/nanopub/NP1168381.RAiWYdfVIVNGia9IMl24aL9z4lEb1l1IcmdYfPf5UkR38#assertion http://purl.org/dc/terms/description [The purpose of this article is to provide a comprehensive review of current research into the genetic basis for CCHS, an explanation for how these studies evolved, recent studies that begin to explain the mechanisms through which mutations in PHOX2B exert their effects, and clinical application of the genetic testing.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP1168381.RAiWYdfVIVNGia9IMl24aL9z4lEb1l1IcmdYfPf5UkR38#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/NP1168381.RAiWYdfVIVNGia9IMl24aL9z4lEb1l1IcmdYfPf5UkR38#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/16054879 http://rdf.disgenet.org/resource/nanopub/NP1168381.RAiWYdfVIVNGia9IMl24aL9z4lEb1l1IcmdYfPf5UkR38#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP1168381.RAiWYdfVIVNGia9IMl24aL9z4lEb1l1IcmdYfPf5UkR38#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/NP1168381.RAiWYdfVIVNGia9IMl24aL9z4lEb1l1IcmdYfPf5UkR38#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1168381.RAiWYdfVIVNGia9IMl24aL9z4lEb1l1IcmdYfPf5UkR38 http://purl.org/dc/terms/created 2017-10-17T13:17:38+02:00 http://rdf.disgenet.org/resource/nanopub/NP1168381.RAiWYdfVIVNGia9IMl24aL9z4lEb1l1IcmdYfPf5UkR38 http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP1168381.RAiWYdfVIVNGia9IMl24aL9z4lEb1l1IcmdYfPf5UkR38 http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP1168381.RAiWYdfVIVNGia9IMl24aL9z4lEb1l1IcmdYfPf5UkR38 http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP1168381.RAiWYdfVIVNGia9IMl24aL9z4lEb1l1IcmdYfPf5UkR38 http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP1168381.RAiWYdfVIVNGia9IMl24aL9z4lEb1l1IcmdYfPf5UkR38 http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP1168381.RAiWYdfVIVNGia9IMl24aL9z4lEb1l1IcmdYfPf5UkR38 http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP1168381.RAiWYdfVIVNGia9IMl24aL9z4lEb1l1IcmdYfPf5UkR38 http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP1168381.RAiWYdfVIVNGia9IMl24aL9z4lEb1l1IcmdYfPf5UkR38 http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1168381.RAiWYdfVIVNGia9IMl24aL9z4lEb1l1IcmdYfPf5UkR38 http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP1168381.RAiWYdfVIVNGia9IMl24aL9z4lEb1l1IcmdYfPf5UkR38 http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1168381.RAiWYdfVIVNGia9IMl24aL9z4lEb1l1IcmdYfPf5UkR38 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