Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP7883.RAPlutUK7xijkleumcV8m4Zu3jdJbhRN2HW86WECyuLas130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP7883.RAPlutUK7xijkleumcV8m4Zu3jdJbhRN2HW86WECyuLas130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP7883.RAPlutUK7xijkleumcV8m4Zu3jdJbhRN2HW86WECyuLas130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP7883.RAPlutUK7xijkleumcV8m4Zu3jdJbhRN2HW86WECyuLas130_provenance.
- NP7883.RAPlutUK7xijkleumcV8m4Zu3jdJbhRN2HW86WECyuLas130_assertion description "[Adenylosuccinate lyase (ADSL) deficiency (MIM 103050) is an autosomal recessive inborn error of purine synthesis characterized by the accumulation in body fluids of succinylaminoimidazolecarboxamide (SAICA) riboside and succinyladenosine (S-Ado), the dephosphorylated derivatives of the two substrates of the enzyme.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP7883.RAPlutUK7xijkleumcV8m4Zu3jdJbhRN2HW86WECyuLas130_provenance.
- NP7883.RAPlutUK7xijkleumcV8m4Zu3jdJbhRN2HW86WECyuLas130_assertion evidence source_evidence_curated NP7883.RAPlutUK7xijkleumcV8m4Zu3jdJbhRN2HW86WECyuLas130_provenance.
- NP7883.RAPlutUK7xijkleumcV8m4Zu3jdJbhRN2HW86WECyuLas130_assertion SIO_000772 10958654 NP7883.RAPlutUK7xijkleumcV8m4Zu3jdJbhRN2HW86WECyuLas130_provenance.
- NP7883.RAPlutUK7xijkleumcV8m4Zu3jdJbhRN2HW86WECyuLas130_assertion wasDerivedFrom ctd_human-20130708 NP7883.RAPlutUK7xijkleumcV8m4Zu3jdJbhRN2HW86WECyuLas130_provenance.
- NP7883.RAPlutUK7xijkleumcV8m4Zu3jdJbhRN2HW86WECyuLas130_assertion wasGeneratedBy ECO_0000218 NP7883.RAPlutUK7xijkleumcV8m4Zu3jdJbhRN2HW86WECyuLas130_provenance.
- ctd_human-20130708 importedOn "2013-07-24" NP7883.RAPlutUK7xijkleumcV8m4Zu3jdJbhRN2HW86WECyuLas130_provenance.