http://rdf.disgenet.org/resource/nanopub/NP903197.RA2QsDsRgIDxVZiR-P2K5leACJ907gB9QWzgvInM9X2ww#head http://rdf.disgenet.org/resource/nanopub/NP903197.RA2QsDsRgIDxVZiR-P2K5leACJ907gB9QWzgvInM9X2ww http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP903197.RA2QsDsRgIDxVZiR-P2K5leACJ907gB9QWzgvInM9X2ww#assertion http://rdf.disgenet.org/resource/nanopub/NP903197.RA2QsDsRgIDxVZiR-P2K5leACJ907gB9QWzgvInM9X2ww http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP903197.RA2QsDsRgIDxVZiR-P2K5leACJ907gB9QWzgvInM9X2ww#provenance http://rdf.disgenet.org/resource/nanopub/NP903197.RA2QsDsRgIDxVZiR-P2K5leACJ907gB9QWzgvInM9X2ww http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP903197.RA2QsDsRgIDxVZiR-P2K5leACJ907gB9QWzgvInM9X2ww#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP903197.RA2QsDsRgIDxVZiR-P2K5leACJ907gB9QWzgvInM9X2ww http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP903197.RA2QsDsRgIDxVZiR-P2K5leACJ907gB9QWzgvInM9X2ww#assertion http://rdf.disgenet.org/resource/gda/DGN0bc64035c6288c7ea6dcd27e593d2c4d http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/5979 http://rdf.disgenet.org/resource/gda/DGN0bc64035c6288c7ea6dcd27e593d2c4d http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C1833921 http://rdf.disgenet.org/resource/gda/DGN0bc64035c6288c7ea6dcd27e593d2c4d http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP903197.RA2QsDsRgIDxVZiR-P2K5leACJ907gB9QWzgvInM9X2ww#provenance http://rdf.disgenet.org/resource/nanopub/NP903197.RA2QsDsRgIDxVZiR-P2K5leACJ907gB9QWzgvInM9X2ww#assertion http://purl.org/dc/terms/description [The predisposing RET mutation in all seven families had been previously reported in MEN 2A or FMTC and occurred in exon 10 at codons 609, 618 or 620, resulting in C609Y, C618S, C620R or C620W substitution.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP903197.RA2QsDsRgIDxVZiR-P2K5leACJ907gB9QWzgvInM9X2ww#assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v5.0.0/void/source_evidence_curated http://rdf.disgenet.org/resource/nanopub/NP903197.RA2QsDsRgIDxVZiR-P2K5leACJ907gB9QWzgvInM9X2ww#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/9384613 http://rdf.disgenet.org/resource/nanopub/NP903197.RA2QsDsRgIDxVZiR-P2K5leACJ907gB9QWzgvInM9X2ww#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/UNIPROT http://rdf.disgenet.org/resource/nanopub/NP903197.RA2QsDsRgIDxVZiR-P2K5leACJ907gB9QWzgvInM9X2ww#assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/ECO_0000218 http://rdf.disgenet.org/v5.0.0/void/UNIPROT http://purl.org/pav/importedOn 2017-01-25 http://rdf.disgenet.org/v5.0.0/void/source_evidence_curated http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://purl.obolibrary.org/obo/ECO_0000205 http://rdf.disgenet.org/v5.0.0/void/source_evidence_curated http://www.w3.org/2000/01/rdf-schema#comment Gene-disease associations manually curated. http://rdf.disgenet.org/v5.0.0/void/source_evidence_curated http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - CURATED http://rdf.disgenet.org/resource/nanopub/NP903197.RA2QsDsRgIDxVZiR-P2K5leACJ907gB9QWzgvInM9X2ww#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP903197.RA2QsDsRgIDxVZiR-P2K5leACJ907gB9QWzgvInM9X2ww http://purl.org/dc/terms/created 2017-10-17T13:15:56+02:00 http://rdf.disgenet.org/resource/nanopub/NP903197.RA2QsDsRgIDxVZiR-P2K5leACJ907gB9QWzgvInM9X2ww http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP903197.RA2QsDsRgIDxVZiR-P2K5leACJ907gB9QWzgvInM9X2ww http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP903197.RA2QsDsRgIDxVZiR-P2K5leACJ907gB9QWzgvInM9X2ww http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP903197.RA2QsDsRgIDxVZiR-P2K5leACJ907gB9QWzgvInM9X2ww http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP903197.RA2QsDsRgIDxVZiR-P2K5leACJ907gB9QWzgvInM9X2ww http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP903197.RA2QsDsRgIDxVZiR-P2K5leACJ907gB9QWzgvInM9X2ww http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP903197.RA2QsDsRgIDxVZiR-P2K5leACJ907gB9QWzgvInM9X2ww http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP903197.RA2QsDsRgIDxVZiR-P2K5leACJ907gB9QWzgvInM9X2ww http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP903197.RA2QsDsRgIDxVZiR-P2K5leACJ907gB9QWzgvInM9X2ww http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP903197.RA2QsDsRgIDxVZiR-P2K5leACJ907gB9QWzgvInM9X2ww http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP903197.RA2QsDsRgIDxVZiR-P2K5leACJ907gB9QWzgvInM9X2ww 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