Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP26507.RA2JQOo-b_hUf4U7u_Nel31FYfFE6z1xVv7rG7PvO_BhU130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP26507.RA2JQOo-b_hUf4U7u_Nel31FYfFE6z1xVv7rG7PvO_BhU130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP26507.RA2JQOo-b_hUf4U7u_Nel31FYfFE6z1xVv7rG7PvO_BhU130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP26507.RA2JQOo-b_hUf4U7u_Nel31FYfFE6z1xVv7rG7PvO_BhU130_provenance.
- NP26507.RA2JQOo-b_hUf4U7u_Nel31FYfFE6z1xVv7rG7PvO_BhU130_assertion description "[Alpers syndrome is a fatal neurogenetic disorder caused by the mutations in POLG1 gene encoding the mitochondrial DNA polymerase gamma (polgamma).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP26507.RA2JQOo-b_hUf4U7u_Nel31FYfFE6z1xVv7rG7PvO_BhU130_provenance.
- NP26507.RA2JQOo-b_hUf4U7u_Nel31FYfFE6z1xVv7rG7PvO_BhU130_assertion evidence source_evidence_curated NP26507.RA2JQOo-b_hUf4U7u_Nel31FYfFE6z1xVv7rG7PvO_BhU130_provenance.
- NP26507.RA2JQOo-b_hUf4U7u_Nel31FYfFE6z1xVv7rG7PvO_BhU130_assertion SIO_000772 17923349 NP26507.RA2JQOo-b_hUf4U7u_Nel31FYfFE6z1xVv7rG7PvO_BhU130_provenance.
- NP26507.RA2JQOo-b_hUf4U7u_Nel31FYfFE6z1xVv7rG7PvO_BhU130_assertion wasDerivedFrom ctd_human-20130708 NP26507.RA2JQOo-b_hUf4U7u_Nel31FYfFE6z1xVv7rG7PvO_BhU130_provenance.
- NP26507.RA2JQOo-b_hUf4U7u_Nel31FYfFE6z1xVv7rG7PvO_BhU130_assertion wasGeneratedBy ECO_0000218 NP26507.RA2JQOo-b_hUf4U7u_Nel31FYfFE6z1xVv7rG7PvO_BhU130_provenance.
- ctd_human-20130708 importedOn "2013-07-24" NP26507.RA2JQOo-b_hUf4U7u_Nel31FYfFE6z1xVv7rG7PvO_BhU130_provenance.