Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP9204.RASnWfpk5o_xAetrSTFYPFJ9yqcxjhIh6d-cDN-KtG1FM130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP9204.RASnWfpk5o_xAetrSTFYPFJ9yqcxjhIh6d-cDN-KtG1FM130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP9204.RASnWfpk5o_xAetrSTFYPFJ9yqcxjhIh6d-cDN-KtG1FM130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP9204.RASnWfpk5o_xAetrSTFYPFJ9yqcxjhIh6d-cDN-KtG1FM130_provenance.
- NP9204.RASnWfpk5o_xAetrSTFYPFJ9yqcxjhIh6d-cDN-KtG1FM130_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." NP9204.RASnWfpk5o_xAetrSTFYPFJ9yqcxjhIh6d-cDN-KtG1FM130_provenance.
- NP9204.RASnWfpk5o_xAetrSTFYPFJ9yqcxjhIh6d-cDN-KtG1FM130_assertion evidence source_evidence_curated NP9204.RASnWfpk5o_xAetrSTFYPFJ9yqcxjhIh6d-cDN-KtG1FM130_provenance.
- NP9204.RASnWfpk5o_xAetrSTFYPFJ9yqcxjhIh6d-cDN-KtG1FM130_assertion SIO_000772 8896567 NP9204.RASnWfpk5o_xAetrSTFYPFJ9yqcxjhIh6d-cDN-KtG1FM130_provenance.
- NP9204.RASnWfpk5o_xAetrSTFYPFJ9yqcxjhIh6d-cDN-KtG1FM130_assertion wasDerivedFrom uniprot-2016 NP9204.RASnWfpk5o_xAetrSTFYPFJ9yqcxjhIh6d-cDN-KtG1FM130_provenance.
- NP9204.RASnWfpk5o_xAetrSTFYPFJ9yqcxjhIh6d-cDN-KtG1FM130_assertion wasGeneratedBy ECO_0000218 NP9204.RASnWfpk5o_xAetrSTFYPFJ9yqcxjhIh6d-cDN-KtG1FM130_provenance.
- uniprot-2016 importedOn "2016-01-25" NP9204.RASnWfpk5o_xAetrSTFYPFJ9yqcxjhIh6d-cDN-KtG1FM130_provenance.