Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP496874.RA7p_4sRmz5Lk923R5xKZyODygHfAdX5Ylshexw3CDQKU130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP496874.RA7p_4sRmz5Lk923R5xKZyODygHfAdX5Ylshexw3CDQKU130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP496874.RA7p_4sRmz5Lk923R5xKZyODygHfAdX5Ylshexw3CDQKU130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP496874.RA7p_4sRmz5Lk923R5xKZyODygHfAdX5Ylshexw3CDQKU130_provenance.
- befree-2016 importedOn "2016-02-19" NP496874.RA7p_4sRmz5Lk923R5xKZyODygHfAdX5Ylshexw3CDQKU130_provenance.
- NP496874.RA7p_4sRmz5Lk923R5xKZyODygHfAdX5Ylshexw3CDQKU130_assertion wasGeneratedBy ECO_0000203 NP496874.RA7p_4sRmz5Lk923R5xKZyODygHfAdX5Ylshexw3CDQKU130_provenance.
- NP496874.RA7p_4sRmz5Lk923R5xKZyODygHfAdX5Ylshexw3CDQKU130_assertion wasDerivedFrom befree-2016 NP496874.RA7p_4sRmz5Lk923R5xKZyODygHfAdX5Ylshexw3CDQKU130_provenance.
- NP496874.RA7p_4sRmz5Lk923R5xKZyODygHfAdX5Ylshexw3CDQKU130_assertion SIO_000772 15921863 NP496874.RA7p_4sRmz5Lk923R5xKZyODygHfAdX5Ylshexw3CDQKU130_provenance.
- NP496874.RA7p_4sRmz5Lk923R5xKZyODygHfAdX5Ylshexw3CDQKU130_assertion evidence source_evidence_literature NP496874.RA7p_4sRmz5Lk923R5xKZyODygHfAdX5Ylshexw3CDQKU130_provenance.
- NP496874.RA7p_4sRmz5Lk923R5xKZyODygHfAdX5Ylshexw3CDQKU130_assertion description "[In addition, recessive POLG1 mutations are responsible for sensory-atactic neuropathy, dysarthria and ophthalmoplegia (SANDO), juvenile spino-cerebellar ataxia-epilepsy syndrome (SCAE) and Alpers-Huttenlocher hepatopathic poliodystrophy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP496874.RA7p_4sRmz5Lk923R5xKZyODygHfAdX5Ylshexw3CDQKU130_provenance.