http://rdf.disgenet.org/resource/nanopub/NP1323657.RAhvxOT5RLoNAoFYIjNAHnwMqg8Lwu4RkaUAoKkeqNHMU130_head
http://rdf.disgenet.org/resource/nanopub/NP1323657.RAhvxOT5RLoNAoFYIjNAHnwMqg8Lwu4RkaUAoKkeqNHMU
http://www.nanopub.org/nschema#hasAssertion
http://rdf.disgenet.org/resource/nanopub/NP1323657.RAhvxOT5RLoNAoFYIjNAHnwMqg8Lwu4RkaUAoKkeqNHMU130_assertion
http://rdf.disgenet.org/resource/nanopub/NP1323657.RAhvxOT5RLoNAoFYIjNAHnwMqg8Lwu4RkaUAoKkeqNHMU
http://www.nanopub.org/nschema#hasProvenance
http://rdf.disgenet.org/resource/nanopub/NP1323657.RAhvxOT5RLoNAoFYIjNAHnwMqg8Lwu4RkaUAoKkeqNHMU130_provenance
http://rdf.disgenet.org/resource/nanopub/NP1323657.RAhvxOT5RLoNAoFYIjNAHnwMqg8Lwu4RkaUAoKkeqNHMU
http://www.nanopub.org/nschema#hasPublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP1323657.RAhvxOT5RLoNAoFYIjNAHnwMqg8Lwu4RkaUAoKkeqNHMU130_publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP1323657.RAhvxOT5RLoNAoFYIjNAHnwMqg8Lwu4RkaUAoKkeqNHMU
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Nanopublication
http://rdf.disgenet.org/resource/nanopub/NP1323657.RAhvxOT5RLoNAoFYIjNAHnwMqg8Lwu4RkaUAoKkeqNHMU130_assertion
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Assertion
http://rdf.disgenet.org/resource/nanopub/NP1323657.RAhvxOT5RLoNAoFYIjNAHnwMqg8Lwu4RkaUAoKkeqNHMU130_provenance
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Provenance
http://rdf.disgenet.org/resource/nanopub/NP1323657.RAhvxOT5RLoNAoFYIjNAHnwMqg8Lwu4RkaUAoKkeqNHMU130_publicationInfo
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#PublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP1323657.RAhvxOT5RLoNAoFYIjNAHnwMqg8Lwu4RkaUAoKkeqNHMU130_assertion
http://identifiers.org/ncbigene/3030
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/C1969443
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/resource/gda/DGN3f4aae8363e5340f7acde22107e59d9f
http://semanticscience.org/resource/SIO_000628
http://identifiers.org/ncbigene/3030
http://rdf.disgenet.org/resource/gda/DGN3f4aae8363e5340f7acde22107e59d9f
http://semanticscience.org/resource/SIO_000628
http://linkedlifedata.com/resource/umls/id/C1969443
http://rdf.disgenet.org/resource/gda/DGN3f4aae8363e5340f7acde22107e59d9f
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://semanticscience.org/resource/SIO_001121
http://rdf.disgenet.org/resource/nanopub/NP1323657.RAhvxOT5RLoNAoFYIjNAHnwMqg8Lwu4RkaUAoKkeqNHMU130_provenance
http://rdf.disgenet.org/resource/nanopub/NP1323657.RAhvxOT5RLoNAoFYIjNAHnwMqg8Lwu4RkaUAoKkeqNHMU130_assertion
http://purl.org/dc/terms/description
[We used single-stranded conformation variance analysis of the exons of the human LCHAD (alpha subunit) gene to determine the molecular basis of LCHAD deficiency in three families with children presenting with sudden unexplained death or hypoglycemia and abnormal liver enzymes (Reye-like syndrome).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
http://rdf.disgenet.org/resource/nanopub/NP1323657.RAhvxOT5RLoNAoFYIjNAHnwMqg8Lwu4RkaUAoKkeqNHMU130_assertion
http://purl.org/ontology/wi/core#evidence
http://rdf.disgenet.org/v4.0.0/void/source_evidence_literature
http://rdf.disgenet.org/resource/nanopub/NP1323657.RAhvxOT5RLoNAoFYIjNAHnwMqg8Lwu4RkaUAoKkeqNHMU130_assertion
http://semanticscience.org/resource/SIO_000772
http://identifiers.org/pubmed/7846063
http://rdf.disgenet.org/resource/nanopub/NP1323657.RAhvxOT5RLoNAoFYIjNAHnwMqg8Lwu4RkaUAoKkeqNHMU130_assertion
http://www.w3.org/ns/prov#wasDerivedFrom
http://rdf.disgenet.org/v4.0.0/void/befree-2016
http://rdf.disgenet.org/resource/nanopub/NP1323657.RAhvxOT5RLoNAoFYIjNAHnwMqg8Lwu4RkaUAoKkeqNHMU130_assertion
http://www.w3.org/ns/prov#wasGeneratedBy
http://purl.obolibrary.org/obo/ECO_0000203
http://rdf.disgenet.org/v4.0.0/void/befree-2016
http://purl.org/pav/importedOn
2016-02-19
http://rdf.disgenet.org/v4.0.0/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/v4.0.0/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/v4.0.0/void/source_evidence_literature
http://www.w3.org/2000/01/rdf-schema#label
DisGeNET evidence - LITERATURE
http://rdf.disgenet.org/resource/nanopub/NP1323657.RAhvxOT5RLoNAoFYIjNAHnwMqg8Lwu4RkaUAoKkeqNHMU130_publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP1323657.RAhvxOT5RLoNAoFYIjNAHnwMqg8Lwu4RkaUAoKkeqNHMU
http://purl.org/dc/terms/created
2016-05-13T12:51:46+02:00
http://rdf.disgenet.org/resource/nanopub/NP1323657.RAhvxOT5RLoNAoFYIjNAHnwMqg8Lwu4RkaUAoKkeqNHMU
http://purl.org/dc/terms/rights
http://opendatacommons.org/licenses/odbl/1.0/
http://rdf.disgenet.org/resource/nanopub/NP1323657.RAhvxOT5RLoNAoFYIjNAHnwMqg8Lwu4RkaUAoKkeqNHMU
http://purl.org/dc/terms/rightsHolder
http://rdf.disgenet.org/v4.0.0/void/IBIGroup
http://rdf.disgenet.org/resource/nanopub/NP1323657.RAhvxOT5RLoNAoFYIjNAHnwMqg8Lwu4RkaUAoKkeqNHMU
http://purl.org/dc/terms/subject
http://semanticscience.org/resource/SIO_000983
http://rdf.disgenet.org/resource/nanopub/NP1323657.RAhvxOT5RLoNAoFYIjNAHnwMqg8Lwu4RkaUAoKkeqNHMU
http://purl.org/net/provenance/ns#usedData
http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf
http://rdf.disgenet.org/resource/nanopub/NP1323657.RAhvxOT5RLoNAoFYIjNAHnwMqg8Lwu4RkaUAoKkeqNHMU
http://purl.org/pav/authoredBy
http://orcid.org/0000-0001-5999-6269
http://rdf.disgenet.org/resource/nanopub/NP1323657.RAhvxOT5RLoNAoFYIjNAHnwMqg8Lwu4RkaUAoKkeqNHMU
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-7534-7661
http://rdf.disgenet.org/resource/nanopub/NP1323657.RAhvxOT5RLoNAoFYIjNAHnwMqg8Lwu4RkaUAoKkeqNHMU
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-9383-528X
http://rdf.disgenet.org/resource/nanopub/NP1323657.RAhvxOT5RLoNAoFYIjNAHnwMqg8Lwu4RkaUAoKkeqNHMU
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP1323657.RAhvxOT5RLoNAoFYIjNAHnwMqg8Lwu4RkaUAoKkeqNHMU
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-1244-7654
http://rdf.disgenet.org/resource/nanopub/NP1323657.RAhvxOT5RLoNAoFYIjNAHnwMqg8Lwu4RkaUAoKkeqNHMU
http://purl.org/pav/createdBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP1323657.RAhvxOT5RLoNAoFYIjNAHnwMqg8Lwu4RkaUAoKkeqNHMU
http://purl.org/pav/version
v4.0.0.0
http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf
http://purl.org/pav/version
v4.0.0