Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP36670.RAwj17eHNOWj1YPeIxP1HreaGPiDu-QnRcz-ikyyX9RnE130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP36670.RAwj17eHNOWj1YPeIxP1HreaGPiDu-QnRcz-ikyyX9RnE130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP36670.RAwj17eHNOWj1YPeIxP1HreaGPiDu-QnRcz-ikyyX9RnE130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP36670.RAwj17eHNOWj1YPeIxP1HreaGPiDu-QnRcz-ikyyX9RnE130_provenance.
- ctd_human-2016 importedOn "2016-01-25" NP36670.RAwj17eHNOWj1YPeIxP1HreaGPiDu-QnRcz-ikyyX9RnE130_provenance.
- NP36670.RAwj17eHNOWj1YPeIxP1HreaGPiDu-QnRcz-ikyyX9RnE130_assertion wasGeneratedBy ECO_0000218 NP36670.RAwj17eHNOWj1YPeIxP1HreaGPiDu-QnRcz-ikyyX9RnE130_provenance.
- NP36670.RAwj17eHNOWj1YPeIxP1HreaGPiDu-QnRcz-ikyyX9RnE130_assertion wasDerivedFrom ctd_human-2016 NP36670.RAwj17eHNOWj1YPeIxP1HreaGPiDu-QnRcz-ikyyX9RnE130_provenance.
- NP36670.RAwj17eHNOWj1YPeIxP1HreaGPiDu-QnRcz-ikyyX9RnE130_assertion SIO_000772 7711737 NP36670.RAwj17eHNOWj1YPeIxP1HreaGPiDu-QnRcz-ikyyX9RnE130_provenance.
- NP36670.RAwj17eHNOWj1YPeIxP1HreaGPiDu-QnRcz-ikyyX9RnE130_assertion evidence source_evidence_curated NP36670.RAwj17eHNOWj1YPeIxP1HreaGPiDu-QnRcz-ikyyX9RnE130_provenance.
- NP36670.RAwj17eHNOWj1YPeIxP1HreaGPiDu-QnRcz-ikyyX9RnE130_assertion description "[Mutations in the phosphorylase kinase gene PHKA2 are responsible for X-linked liver glycogen storage disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP36670.RAwj17eHNOWj1YPeIxP1HreaGPiDu-QnRcz-ikyyX9RnE130_provenance.