Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1361613.RARyqLLSUeFZhMF2P2XRRnPi6JoEXUDhlfz5K4gi8ZS-I130_assertion> ?p ?o ?g. }
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- NP1361613.RARyqLLSUeFZhMF2P2XRRnPi6JoEXUDhlfz5K4gi8ZS-I130_assertion type Assertion NP1361613.RARyqLLSUeFZhMF2P2XRRnPi6JoEXUDhlfz5K4gi8ZS-I130_head.
- NP1361613.RARyqLLSUeFZhMF2P2XRRnPi6JoEXUDhlfz5K4gi8ZS-I130_assertion description "[Mutations in the testis/liver isoform of the phosphorylase kinase gamma subunit (PHKG2) cause autosomal liver glycogenosis in the gsd rat and in humans.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1361613.RARyqLLSUeFZhMF2P2XRRnPi6JoEXUDhlfz5K4gi8ZS-I130_provenance.
- NP1361613.RARyqLLSUeFZhMF2P2XRRnPi6JoEXUDhlfz5K4gi8ZS-I130_assertion evidence source_evidence_literature NP1361613.RARyqLLSUeFZhMF2P2XRRnPi6JoEXUDhlfz5K4gi8ZS-I130_provenance.
- NP1361613.RARyqLLSUeFZhMF2P2XRRnPi6JoEXUDhlfz5K4gi8ZS-I130_assertion SIO_000772 8896567 NP1361613.RARyqLLSUeFZhMF2P2XRRnPi6JoEXUDhlfz5K4gi8ZS-I130_provenance.
- NP1361613.RARyqLLSUeFZhMF2P2XRRnPi6JoEXUDhlfz5K4gi8ZS-I130_assertion wasDerivedFrom befree-2016 NP1361613.RARyqLLSUeFZhMF2P2XRRnPi6JoEXUDhlfz5K4gi8ZS-I130_provenance.
- NP1361613.RARyqLLSUeFZhMF2P2XRRnPi6JoEXUDhlfz5K4gi8ZS-I130_assertion wasGeneratedBy ECO_0000203 NP1361613.RARyqLLSUeFZhMF2P2XRRnPi6JoEXUDhlfz5K4gi8ZS-I130_provenance.