Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1204.RAR53ObUYtJQfZ9U_pnumgATZQuLDDYJZ0Q_BWaNOjcgU130_assertion> ?p ?o ?g. }
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- NP1204.RAR53ObUYtJQfZ9U_pnumgATZQuLDDYJZ0Q_BWaNOjcgU130_assertion type Assertion NP1204.RAR53ObUYtJQfZ9U_pnumgATZQuLDDYJZ0Q_BWaNOjcgU130_head.
- 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.