Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1066917.RA3ukRo2tWSz9NKR1wKvH595ZMyoBfKrI7Lsll4e3-qK0130_assertion> ?p ?o ?g. }
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- NP1066917.RA3ukRo2tWSz9NKR1wKvH595ZMyoBfKrI7Lsll4e3-qK0130_assertion type Assertion NP1066917.RA3ukRo2tWSz9NKR1wKvH595ZMyoBfKrI7Lsll4e3-qK0130_head.
- NP1066917.RA3ukRo2tWSz9NKR1wKvH595ZMyoBfKrI7Lsll4e3-qK0130_assertion description "[Deficiency in SLC25A1, encoding the mitochondrial citrate carrier, causes combined D-2- and L-2-hydroxyglutaric aciduria.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1066917.RA3ukRo2tWSz9NKR1wKvH595ZMyoBfKrI7Lsll4e3-qK0130_provenance.
- NP1066917.RA3ukRo2tWSz9NKR1wKvH595ZMyoBfKrI7Lsll4e3-qK0130_assertion evidence source_evidence_literature NP1066917.RA3ukRo2tWSz9NKR1wKvH595ZMyoBfKrI7Lsll4e3-qK0130_provenance.
- NP1066917.RA3ukRo2tWSz9NKR1wKvH595ZMyoBfKrI7Lsll4e3-qK0130_assertion SIO_000772 23561848 NP1066917.RA3ukRo2tWSz9NKR1wKvH595ZMyoBfKrI7Lsll4e3-qK0130_provenance.
- NP1066917.RA3ukRo2tWSz9NKR1wKvH595ZMyoBfKrI7Lsll4e3-qK0130_assertion wasDerivedFrom befree-2016 NP1066917.RA3ukRo2tWSz9NKR1wKvH595ZMyoBfKrI7Lsll4e3-qK0130_provenance.
- NP1066917.RA3ukRo2tWSz9NKR1wKvH595ZMyoBfKrI7Lsll4e3-qK0130_assertion wasGeneratedBy ECO_0000203 NP1066917.RA3ukRo2tWSz9NKR1wKvH595ZMyoBfKrI7Lsll4e3-qK0130_provenance.