Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP867483.RAB4q3c5TUoQ7tXY-ZjUbydpmlHr-oxRk4u0g9WUOlDTs130_assertion> ?p ?o ?g. }
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- NP867483.RAB4q3c5TUoQ7tXY-ZjUbydpmlHr-oxRk4u0g9WUOlDTs130_assertion type Assertion NP867483.RAB4q3c5TUoQ7tXY-ZjUbydpmlHr-oxRk4u0g9WUOlDTs130_head.
- NP867483.RAB4q3c5TUoQ7tXY-ZjUbydpmlHr-oxRk4u0g9WUOlDTs130_assertion wasGeneratedBy ECO_0000203 NP867483.RAB4q3c5TUoQ7tXY-ZjUbydpmlHr-oxRk4u0g9WUOlDTs130_provenance.
- NP867483.RAB4q3c5TUoQ7tXY-ZjUbydpmlHr-oxRk4u0g9WUOlDTs130_assertion wasDerivedFrom befree-20140225 NP867483.RAB4q3c5TUoQ7tXY-ZjUbydpmlHr-oxRk4u0g9WUOlDTs130_provenance.
- NP867483.RAB4q3c5TUoQ7tXY-ZjUbydpmlHr-oxRk4u0g9WUOlDTs130_assertion SIO_000772 22212387 NP867483.RAB4q3c5TUoQ7tXY-ZjUbydpmlHr-oxRk4u0g9WUOlDTs130_provenance.
- NP867483.RAB4q3c5TUoQ7tXY-ZjUbydpmlHr-oxRk4u0g9WUOlDTs130_assertion evidence source_evidence_literature NP867483.RAB4q3c5TUoQ7tXY-ZjUbydpmlHr-oxRk4u0g9WUOlDTs130_provenance.
- NP867483.RAB4q3c5TUoQ7tXY-ZjUbydpmlHr-oxRk4u0g9WUOlDTs130_assertion description "[Adenine phosphoribosyltransferase (APRT) deficiency is a rare autosomal recessive disorder characterized by 2,8-dihydroxyadenine (2,8-DHA) crystalluria that can cause nephrolithiasis and chronic kidney disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP867483.RAB4q3c5TUoQ7tXY-ZjUbydpmlHr-oxRk4u0g9WUOlDTs130_provenance.