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- source_evidence_literature type ECO_0000212 NP223526.RA5iSWVj2CN4rUO1IThglSkBVcaXV0KhyINV09dnqUcA8130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP223526.RA5iSWVj2CN4rUO1IThglSkBVcaXV0KhyINV09dnqUcA8130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP223526.RA5iSWVj2CN4rUO1IThglSkBVcaXV0KhyINV09dnqUcA8130_provenance.
- NP223526.RA5iSWVj2CN4rUO1IThglSkBVcaXV0KhyINV09dnqUcA8130_assertion description "[The results support the concept that deletions as well as depletion of mtDNA are involved in the pathogenesis of Alpers-Huttenlocher syndrome and add 3 new POLG1 mutations associated with an early-onset neurodegenerative disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP223526.RA5iSWVj2CN4rUO1IThglSkBVcaXV0KhyINV09dnqUcA8130_provenance.
- NP223526.RA5iSWVj2CN4rUO1IThglSkBVcaXV0KhyINV09dnqUcA8130_assertion evidence source_evidence_literature NP223526.RA5iSWVj2CN4rUO1IThglSkBVcaXV0KhyINV09dnqUcA8130_provenance.
- NP223526.RA5iSWVj2CN4rUO1IThglSkBVcaXV0KhyINV09dnqUcA8130_assertion SIO_000772 16896309 NP223526.RA5iSWVj2CN4rUO1IThglSkBVcaXV0KhyINV09dnqUcA8130_provenance.
- NP223526.RA5iSWVj2CN4rUO1IThglSkBVcaXV0KhyINV09dnqUcA8130_assertion wasDerivedFrom befree-20150227 NP223526.RA5iSWVj2CN4rUO1IThglSkBVcaXV0KhyINV09dnqUcA8130_provenance.
- NP223526.RA5iSWVj2CN4rUO1IThglSkBVcaXV0KhyINV09dnqUcA8130_assertion wasGeneratedBy ECO_0000203 NP223526.RA5iSWVj2CN4rUO1IThglSkBVcaXV0KhyINV09dnqUcA8130_provenance.
- befree-20150227 importedOn "2015-02-27" NP223526.RA5iSWVj2CN4rUO1IThglSkBVcaXV0KhyINV09dnqUcA8130_provenance.