http://rdf.disgenet.org/resource/nanopub/NP671062.RAsRGYrJDf6GiQoRCvZFFaez3aXBX4AQtM-oNytz-6xlg#head http://rdf.disgenet.org/resource/nanopub/NP671062.RAsRGYrJDf6GiQoRCvZFFaez3aXBX4AQtM-oNytz-6xlg http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP671062.RAsRGYrJDf6GiQoRCvZFFaez3aXBX4AQtM-oNytz-6xlg#assertion http://rdf.disgenet.org/resource/nanopub/NP671062.RAsRGYrJDf6GiQoRCvZFFaez3aXBX4AQtM-oNytz-6xlg http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP671062.RAsRGYrJDf6GiQoRCvZFFaez3aXBX4AQtM-oNytz-6xlg#provenance http://rdf.disgenet.org/resource/nanopub/NP671062.RAsRGYrJDf6GiQoRCvZFFaez3aXBX4AQtM-oNytz-6xlg http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP671062.RAsRGYrJDf6GiQoRCvZFFaez3aXBX4AQtM-oNytz-6xlg#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP671062.RAsRGYrJDf6GiQoRCvZFFaez3aXBX4AQtM-oNytz-6xlg http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP671062.RAsRGYrJDf6GiQoRCvZFFaez3aXBX4AQtM-oNytz-6xlg#assertion http://rdf.disgenet.org/resource/gda/DGNb251a89c32d3ad8469153ab3b27ac492 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/4163 http://rdf.disgenet.org/resource/gda/DGNb251a89c32d3ad8469153ab3b27ac492 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0268600 http://rdf.disgenet.org/resource/gda/DGNb251a89c32d3ad8469153ab3b27ac492 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP671062.RAsRGYrJDf6GiQoRCvZFFaez3aXBX4AQtM-oNytz-6xlg#provenance http://rdf.disgenet.org/resource/nanopub/NP671062.RAsRGYrJDf6GiQoRCvZFFaez3aXBX4AQtM-oNytz-6xlg#assertion http://purl.org/dc/terms/description [Our study shows that nonspecific phenotypes attributed to MCCD are associated with consanguinity and are likely not due to mutations in the MCC enzyme but result from rare homozygous mutations in other disease genes.Genet Med 17 8, 660-667.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP671062.RAsRGYrJDf6GiQoRCvZFFaez3aXBX4AQtM-oNytz-6xlg#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/NP671062.RAsRGYrJDf6GiQoRCvZFFaez3aXBX4AQtM-oNytz-6xlg#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/25356967 http://rdf.disgenet.org/resource/nanopub/NP671062.RAsRGYrJDf6GiQoRCvZFFaez3aXBX4AQtM-oNytz-6xlg#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP671062.RAsRGYrJDf6GiQoRCvZFFaez3aXBX4AQtM-oNytz-6xlg#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/NP671062.RAsRGYrJDf6GiQoRCvZFFaez3aXBX4AQtM-oNytz-6xlg#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP671062.RAsRGYrJDf6GiQoRCvZFFaez3aXBX4AQtM-oNytz-6xlg http://purl.org/dc/terms/created 2017-10-17T13:14:27+02:00 http://rdf.disgenet.org/resource/nanopub/NP671062.RAsRGYrJDf6GiQoRCvZFFaez3aXBX4AQtM-oNytz-6xlg http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP671062.RAsRGYrJDf6GiQoRCvZFFaez3aXBX4AQtM-oNytz-6xlg http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP671062.RAsRGYrJDf6GiQoRCvZFFaez3aXBX4AQtM-oNytz-6xlg http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP671062.RAsRGYrJDf6GiQoRCvZFFaez3aXBX4AQtM-oNytz-6xlg http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP671062.RAsRGYrJDf6GiQoRCvZFFaez3aXBX4AQtM-oNytz-6xlg http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP671062.RAsRGYrJDf6GiQoRCvZFFaez3aXBX4AQtM-oNytz-6xlg http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP671062.RAsRGYrJDf6GiQoRCvZFFaez3aXBX4AQtM-oNytz-6xlg http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP671062.RAsRGYrJDf6GiQoRCvZFFaez3aXBX4AQtM-oNytz-6xlg http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP671062.RAsRGYrJDf6GiQoRCvZFFaez3aXBX4AQtM-oNytz-6xlg http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP671062.RAsRGYrJDf6GiQoRCvZFFaez3aXBX4AQtM-oNytz-6xlg http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP671062.RAsRGYrJDf6GiQoRCvZFFaez3aXBX4AQtM-oNytz-6xlg 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