Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP1204.RAR53ObUYtJQfZ9U_pnumgATZQuLDDYJZ0Q_BWaNOjcgU130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP1204.RAR53ObUYtJQfZ9U_pnumgATZQuLDDYJZ0Q_BWaNOjcgU130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP1204.RAR53ObUYtJQfZ9U_pnumgATZQuLDDYJZ0Q_BWaNOjcgU130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP1204.RAR53ObUYtJQfZ9U_pnumgATZQuLDDYJZ0Q_BWaNOjcgU130_provenance.
- NP1204.RAR53ObUYtJQfZ9U_pnumgATZQuLDDYJZ0Q_BWaNOjcgU130_assertion description "[A rare case of complete human erythrocyte AMP deaminase deficiency due to two novel missense mutations in AMPD3.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1204.RAR53ObUYtJQfZ9U_pnumgATZQuLDDYJZ0Q_BWaNOjcgU130_provenance.
- NP1204.RAR53ObUYtJQfZ9U_pnumgATZQuLDDYJZ0Q_BWaNOjcgU130_assertion evidence source_evidence_curated NP1204.RAR53ObUYtJQfZ9U_pnumgATZQuLDDYJZ0Q_BWaNOjcgU130_provenance.
- NP1204.RAR53ObUYtJQfZ9U_pnumgATZQuLDDYJZ0Q_BWaNOjcgU130_assertion SIO_000772 11139257 NP1204.RAR53ObUYtJQfZ9U_pnumgATZQuLDDYJZ0Q_BWaNOjcgU130_provenance.
- NP1204.RAR53ObUYtJQfZ9U_pnumgATZQuLDDYJZ0Q_BWaNOjcgU130_assertion wasDerivedFrom uniprot-2016 NP1204.RAR53ObUYtJQfZ9U_pnumgATZQuLDDYJZ0Q_BWaNOjcgU130_provenance.
- NP1204.RAR53ObUYtJQfZ9U_pnumgATZQuLDDYJZ0Q_BWaNOjcgU130_assertion wasGeneratedBy ECO_0000218 NP1204.RAR53ObUYtJQfZ9U_pnumgATZQuLDDYJZ0Q_BWaNOjcgU130_provenance.
- uniprot-2016 importedOn "2016-01-25" NP1204.RAR53ObUYtJQfZ9U_pnumgATZQuLDDYJZ0Q_BWaNOjcgU130_provenance.