http://rdf.disgenet.org/nanopublications.trig#NP307188.RA90DaNAE-eucPM9oCqfaH2pKI0HmbDTov9l3SauvW87M130_head http://rdf.disgenet.org/nanopublications.trig#NP307188.RA90DaNAE-eucPM9oCqfaH2pKI0HmbDTov9l3SauvW87M http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/nanopublications.trig#NP307188.RA90DaNAE-eucPM9oCqfaH2pKI0HmbDTov9l3SauvW87M130_assertion http://rdf.disgenet.org/nanopublications.trig#NP307188.RA90DaNAE-eucPM9oCqfaH2pKI0HmbDTov9l3SauvW87M http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/nanopublications.trig#NP307188.RA90DaNAE-eucPM9oCqfaH2pKI0HmbDTov9l3SauvW87M130_provenance http://rdf.disgenet.org/nanopublications.trig#NP307188.RA90DaNAE-eucPM9oCqfaH2pKI0HmbDTov9l3SauvW87M http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP307188.RA90DaNAE-eucPM9oCqfaH2pKI0HmbDTov9l3SauvW87M130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP307188.RA90DaNAE-eucPM9oCqfaH2pKI0HmbDTov9l3SauvW87M http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/nanopublications.trig#NP307188.RA90DaNAE-eucPM9oCqfaH2pKI0HmbDTov9l3SauvW87M130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/nanopublications.trig#NP307188.RA90DaNAE-eucPM9oCqfaH2pKI0HmbDTov9l3SauvW87M130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/nanopublications.trig#NP307188.RA90DaNAE-eucPM9oCqfaH2pKI0HmbDTov9l3SauvW87M130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP307188.RA90DaNAE-eucPM9oCqfaH2pKI0HmbDTov9l3SauvW87M130_assertion http://identifiers.org/ncbigene/2668 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/C2931876 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/gene-disease-association.ttl#DGNa5e70d30816aeb593a07f2e0902e2b5a http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/2668 http://rdf.disgenet.org/gene-disease-association.ttl#DGNa5e70d30816aeb593a07f2e0902e2b5a http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C2931876 http://rdf.disgenet.org/gene-disease-association.ttl#DGNa5e70d30816aeb593a07f2e0902e2b5a http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/nanopublications.trig#NP307188.RA90DaNAE-eucPM9oCqfaH2pKI0HmbDTov9l3SauvW87M130_provenance http://rdf.disgenet.org/nanopublications.trig#NP307188.RA90DaNAE-eucPM9oCqfaH2pKI0HmbDTov9l3SauvW87M130_assertion http://purl.org/dc/terms/description [Since genomic rearrangements in particularly sensitive areas of the RET protooncogene and/or associated genes may account for the CCHS/HSCR phenotype in patients without other detectable RET variants, the aim of the present study was to identify rearrangements in the coding sequence of RET as well as in three HSCR-associated genes (ZEB2, EDN3 and GDNF) in CCHS/HSCR patients by using Multiplex Ligation-dependent Probe Amplification (MLPA).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/nanopublications.trig#NP307188.RA90DaNAE-eucPM9oCqfaH2pKI0HmbDTov9l3SauvW87M130_assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v2.1.0/void.ttl#source_evidence_literature http://rdf.disgenet.org/nanopublications.trig#NP307188.RA90DaNAE-eucPM9oCqfaH2pKI0HmbDTov9l3SauvW87M130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/20456320 http://rdf.disgenet.org/nanopublications.trig#NP307188.RA90DaNAE-eucPM9oCqfaH2pKI0HmbDTov9l3SauvW87M130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v2.1.0/void.ttl#befree-20140225 http://rdf.disgenet.org/nanopublications.trig#NP307188.RA90DaNAE-eucPM9oCqfaH2pKI0HmbDTov9l3SauvW87M130_assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/eco.owl#ECO_0000203 http://rdf.disgenet.org/v2.1.0/void.ttl#befree-20140225 http://purl.org/pav/2.0/importedOn 2014-02-25 http://rdf.disgenet.org/v2.1.0/void.ttl#source_evidence_literature http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://purl.obolibrary.org/obo/eco.owl#ECO_0000212 http://rdf.disgenet.org/v2.1.0/void.ttl#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/v2.1.0/void.ttl#source_evidence_literature http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - LITERATURE http://rdf.disgenet.org/nanopublications.trig#NP307188.RA90DaNAE-eucPM9oCqfaH2pKI0HmbDTov9l3SauvW87M130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP307188.RA90DaNAE-eucPM9oCqfaH2pKI0HmbDTov9l3SauvW87M http://purl.org/dc/terms/created 2014-10-02T12:34:56+02:00 http://rdf.disgenet.org/nanopublications.trig#NP307188.RA90DaNAE-eucPM9oCqfaH2pKI0HmbDTov9l3SauvW87M http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/nanopublications.trig#NP307188.RA90DaNAE-eucPM9oCqfaH2pKI0HmbDTov9l3SauvW87M http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v2.1.0/void.ttl#IBIGroup http://rdf.disgenet.org/nanopublications.trig#NP307188.RA90DaNAE-eucPM9oCqfaH2pKI0HmbDTov9l3SauvW87M http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/nanopublications.trig#NP307188.RA90DaNAE-eucPM9oCqfaH2pKI0HmbDTov9l3SauvW87M http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf http://rdf.disgenet.org/nanopublications.trig#NP307188.RA90DaNAE-eucPM9oCqfaH2pKI0HmbDTov9l3SauvW87M http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/nanopublications.trig#NP307188.RA90DaNAE-eucPM9oCqfaH2pKI0HmbDTov9l3SauvW87M http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/nanopublications.trig#NP307188.RA90DaNAE-eucPM9oCqfaH2pKI0HmbDTov9l3SauvW87M http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/nanopublications.trig#NP307188.RA90DaNAE-eucPM9oCqfaH2pKI0HmbDTov9l3SauvW87M http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP307188.RA90DaNAE-eucPM9oCqfaH2pKI0HmbDTov9l3SauvW87M http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/nanopublications.trig#NP307188.RA90DaNAE-eucPM9oCqfaH2pKI0HmbDTov9l3SauvW87M http://purl.org/pav/2.0/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP307188.RA90DaNAE-eucPM9oCqfaH2pKI0HmbDTov9l3SauvW87M http://purl.org/pav/2.0/version v2.1.0.0 http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf http://purl.org/pav/2.0/version v2.1.0