Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP1711.RAQR20BmEZK44qLgf1OU7TxWYJ1_nE73ZX4e7OR3MjKTo130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP1711.RAQR20BmEZK44qLgf1OU7TxWYJ1_nE73ZX4e7OR3MjKTo130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP1711.RAQR20BmEZK44qLgf1OU7TxWYJ1_nE73ZX4e7OR3MjKTo130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP1711.RAQR20BmEZK44qLgf1OU7TxWYJ1_nE73ZX4e7OR3MjKTo130_provenance.
- NP1711.RAQR20BmEZK44qLgf1OU7TxWYJ1_nE73ZX4e7OR3MjKTo130_assertion description "[Severe phenotype of phosphorylase kinase-deficient liver glycogenosis with mutations in the PHKG2 gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1711.RAQR20BmEZK44qLgf1OU7TxWYJ1_nE73ZX4e7OR3MjKTo130_provenance.
- NP1711.RAQR20BmEZK44qLgf1OU7TxWYJ1_nE73ZX4e7OR3MjKTo130_assertion evidence source_evidence_curated NP1711.RAQR20BmEZK44qLgf1OU7TxWYJ1_nE73ZX4e7OR3MjKTo130_provenance.
- NP1711.RAQR20BmEZK44qLgf1OU7TxWYJ1_nE73ZX4e7OR3MjKTo130_assertion SIO_000772 12930917 NP1711.RAQR20BmEZK44qLgf1OU7TxWYJ1_nE73ZX4e7OR3MjKTo130_provenance.
- NP1711.RAQR20BmEZK44qLgf1OU7TxWYJ1_nE73ZX4e7OR3MjKTo130_assertion wasDerivedFrom uniprot-20150221 NP1711.RAQR20BmEZK44qLgf1OU7TxWYJ1_nE73ZX4e7OR3MjKTo130_provenance.
- NP1711.RAQR20BmEZK44qLgf1OU7TxWYJ1_nE73ZX4e7OR3MjKTo130_assertion wasGeneratedBy ECO_0000218 NP1711.RAQR20BmEZK44qLgf1OU7TxWYJ1_nE73ZX4e7OR3MjKTo130_provenance.
- uniprot-20150221 importedOn "2015-02-21" NP1711.RAQR20BmEZK44qLgf1OU7TxWYJ1_nE73ZX4e7OR3MjKTo130_provenance.