Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP571749.RAa15rfrHs5dR5_NyOX2hX-tuh_B2DbvjKLRIRnEPdpPQ130_assertion> ?p ?o ?g. }
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- NP571749.RAa15rfrHs5dR5_NyOX2hX-tuh_B2DbvjKLRIRnEPdpPQ130_assertion type Assertion NP571749.RAa15rfrHs5dR5_NyOX2hX-tuh_B2DbvjKLRIRnEPdpPQ130_head.
- NP571749.RAa15rfrHs5dR5_NyOX2hX-tuh_B2DbvjKLRIRnEPdpPQ130_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." NP571749.RAa15rfrHs5dR5_NyOX2hX-tuh_B2DbvjKLRIRnEPdpPQ130_provenance.
- NP571749.RAa15rfrHs5dR5_NyOX2hX-tuh_B2DbvjKLRIRnEPdpPQ130_assertion evidence source_evidence_literature NP571749.RAa15rfrHs5dR5_NyOX2hX-tuh_B2DbvjKLRIRnEPdpPQ130_provenance.
- NP571749.RAa15rfrHs5dR5_NyOX2hX-tuh_B2DbvjKLRIRnEPdpPQ130_assertion SIO_000772 8896567 NP571749.RAa15rfrHs5dR5_NyOX2hX-tuh_B2DbvjKLRIRnEPdpPQ130_provenance.
- NP571749.RAa15rfrHs5dR5_NyOX2hX-tuh_B2DbvjKLRIRnEPdpPQ130_assertion wasDerivedFrom befree-20140225 NP571749.RAa15rfrHs5dR5_NyOX2hX-tuh_B2DbvjKLRIRnEPdpPQ130_provenance.
- NP571749.RAa15rfrHs5dR5_NyOX2hX-tuh_B2DbvjKLRIRnEPdpPQ130_assertion wasGeneratedBy ECO_0000203 NP571749.RAa15rfrHs5dR5_NyOX2hX-tuh_B2DbvjKLRIRnEPdpPQ130_provenance.