http://rdf.disgenet.org/resource/nanopub/NP1208587.RAGJ7fntCORdCAvblxTtbE8eFRBbqTLi2ju9xEpYA9JrU#head
http://rdf.disgenet.org/resource/nanopub/NP1208587.RAGJ7fntCORdCAvblxTtbE8eFRBbqTLi2ju9xEpYA9JrU
http://www.nanopub.org/nschema#hasAssertion
http://rdf.disgenet.org/resource/nanopub/NP1208587.RAGJ7fntCORdCAvblxTtbE8eFRBbqTLi2ju9xEpYA9JrU#assertion
http://rdf.disgenet.org/resource/nanopub/NP1208587.RAGJ7fntCORdCAvblxTtbE8eFRBbqTLi2ju9xEpYA9JrU
http://www.nanopub.org/nschema#hasProvenance
http://rdf.disgenet.org/resource/nanopub/NP1208587.RAGJ7fntCORdCAvblxTtbE8eFRBbqTLi2ju9xEpYA9JrU#provenance
http://rdf.disgenet.org/resource/nanopub/NP1208587.RAGJ7fntCORdCAvblxTtbE8eFRBbqTLi2ju9xEpYA9JrU
http://www.nanopub.org/nschema#hasPublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP1208587.RAGJ7fntCORdCAvblxTtbE8eFRBbqTLi2ju9xEpYA9JrU#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP1208587.RAGJ7fntCORdCAvblxTtbE8eFRBbqTLi2ju9xEpYA9JrU
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Nanopublication
http://rdf.disgenet.org/resource/nanopub/NP1208587.RAGJ7fntCORdCAvblxTtbE8eFRBbqTLi2ju9xEpYA9JrU#assertion
http://rdf.disgenet.org/resource/gda/DGN8eb5861b7788e164f2598a638ea518ac
http://semanticscience.org/resource/SIO_000628
http://identifiers.org/ncbigene/10165
http://rdf.disgenet.org/resource/gda/DGN8eb5861b7788e164f2598a638ea518ac
http://semanticscience.org/resource/SIO_000628
http://linkedlifedata.com/resource/umls/id/C1863844
http://rdf.disgenet.org/resource/gda/DGN8eb5861b7788e164f2598a638ea518ac
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://semanticscience.org/resource/SIO_001121
http://rdf.disgenet.org/resource/nanopub/NP1208587.RAGJ7fntCORdCAvblxTtbE8eFRBbqTLi2ju9xEpYA9JrU#provenance
http://rdf.disgenet.org/resource/nanopub/NP1208587.RAGJ7fntCORdCAvblxTtbE8eFRBbqTLi2ju9xEpYA9JrU#assertion
http://purl.org/dc/terms/description
[The diagnosis of CTLN2 was confirmed by elevations of plasma citrulline level (384.3 nmol/mL; normal 17-43 nmol/mL) and serum pancreatic secretory trypsin inhibitor (PSTI) (110 ng/mL; normal 4.6-12.2 ng/mL), decrease in hepatic argininosuccinate synthetase activity (5.5% of control), lack of hepatic citrin protein expression and mutations in SLC25A13 gene (compound heterozygote with S225X and Ex1-1G>A).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
http://rdf.disgenet.org/resource/nanopub/NP1208587.RAGJ7fntCORdCAvblxTtbE8eFRBbqTLi2ju9xEpYA9JrU#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/NP1208587.RAGJ7fntCORdCAvblxTtbE8eFRBbqTLi2ju9xEpYA9JrU#assertion
http://semanticscience.org/resource/SIO_000772
http://identifiers.org/pubmed/16449956
http://rdf.disgenet.org/resource/nanopub/NP1208587.RAGJ7fntCORdCAvblxTtbE8eFRBbqTLi2ju9xEpYA9JrU#assertion
http://www.w3.org/ns/prov#wasDerivedFrom
http://rdf.disgenet.org/v5.0.0/void/CTD_human
http://rdf.disgenet.org/resource/nanopub/NP1208587.RAGJ7fntCORdCAvblxTtbE8eFRBbqTLi2ju9xEpYA9JrU#assertion
http://www.w3.org/ns/prov#wasGeneratedBy
http://purl.obolibrary.org/obo/ECO_0000218
http://rdf.disgenet.org/v5.0.0/void/CTD_human
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/NP1208587.RAGJ7fntCORdCAvblxTtbE8eFRBbqTLi2ju9xEpYA9JrU#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP1208587.RAGJ7fntCORdCAvblxTtbE8eFRBbqTLi2ju9xEpYA9JrU
http://purl.org/dc/terms/created
2017-10-17T13:17:53+02:00
http://rdf.disgenet.org/resource/nanopub/NP1208587.RAGJ7fntCORdCAvblxTtbE8eFRBbqTLi2ju9xEpYA9JrU
http://purl.org/dc/terms/rights
http://opendatacommons.org/licenses/odbl/1.0/
http://rdf.disgenet.org/resource/nanopub/NP1208587.RAGJ7fntCORdCAvblxTtbE8eFRBbqTLi2ju9xEpYA9JrU
http://purl.org/dc/terms/rightsHolder
http://rdf.disgenet.org/v5.0.0/void/IBIGroup
http://rdf.disgenet.org/resource/nanopub/NP1208587.RAGJ7fntCORdCAvblxTtbE8eFRBbqTLi2ju9xEpYA9JrU
http://purl.org/dc/terms/subject
http://semanticscience.org/resource/SIO_000983
http://rdf.disgenet.org/resource/nanopub/NP1208587.RAGJ7fntCORdCAvblxTtbE8eFRBbqTLi2ju9xEpYA9JrU
http://purl.org/net/provenance/ns#usedData
http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf
http://rdf.disgenet.org/resource/nanopub/NP1208587.RAGJ7fntCORdCAvblxTtbE8eFRBbqTLi2ju9xEpYA9JrU
http://purl.org/pav/authoredBy
http://orcid.org/0000-0001-5999-6269
http://rdf.disgenet.org/resource/nanopub/NP1208587.RAGJ7fntCORdCAvblxTtbE8eFRBbqTLi2ju9xEpYA9JrU
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-7534-7661
http://rdf.disgenet.org/resource/nanopub/NP1208587.RAGJ7fntCORdCAvblxTtbE8eFRBbqTLi2ju9xEpYA9JrU
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-9383-528X
http://rdf.disgenet.org/resource/nanopub/NP1208587.RAGJ7fntCORdCAvblxTtbE8eFRBbqTLi2ju9xEpYA9JrU
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP1208587.RAGJ7fntCORdCAvblxTtbE8eFRBbqTLi2ju9xEpYA9JrU
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-1244-7654
http://rdf.disgenet.org/resource/nanopub/NP1208587.RAGJ7fntCORdCAvblxTtbE8eFRBbqTLi2ju9xEpYA9JrU
http://purl.org/pav/createdBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP1208587.RAGJ7fntCORdCAvblxTtbE8eFRBbqTLi2ju9xEpYA9JrU
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