Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP909074.RAxCcJ3Ufg-N4Y3qPVp-Ktls7x35GU62YWGRQvI4y_sDY130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP909074.RAxCcJ3Ufg-N4Y3qPVp-Ktls7x35GU62YWGRQvI4y_sDY130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP909074.RAxCcJ3Ufg-N4Y3qPVp-Ktls7x35GU62YWGRQvI4y_sDY130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP909074.RAxCcJ3Ufg-N4Y3qPVp-Ktls7x35GU62YWGRQvI4y_sDY130_provenance.
- NP909074.RAxCcJ3Ufg-N4Y3qPVp-Ktls7x35GU62YWGRQvI4y_sDY130_assertion description "[The patient presented with exercise-induced paroxysmal gait ataxia and areflexia as an atypical phenotype associated with a novel homozygous DARS2 mutation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP909074.RAxCcJ3Ufg-N4Y3qPVp-Ktls7x35GU62YWGRQvI4y_sDY130_provenance.
- NP909074.RAxCcJ3Ufg-N4Y3qPVp-Ktls7x35GU62YWGRQvI4y_sDY130_assertion evidence source_evidence_literature NP909074.RAxCcJ3Ufg-N4Y3qPVp-Ktls7x35GU62YWGRQvI4y_sDY130_provenance.
- NP909074.RAxCcJ3Ufg-N4Y3qPVp-Ktls7x35GU62YWGRQvI4y_sDY130_assertion SIO_000772 21749991 NP909074.RAxCcJ3Ufg-N4Y3qPVp-Ktls7x35GU62YWGRQvI4y_sDY130_provenance.
- NP909074.RAxCcJ3Ufg-N4Y3qPVp-Ktls7x35GU62YWGRQvI4y_sDY130_assertion wasDerivedFrom befree-2016 NP909074.RAxCcJ3Ufg-N4Y3qPVp-Ktls7x35GU62YWGRQvI4y_sDY130_provenance.
- NP909074.RAxCcJ3Ufg-N4Y3qPVp-Ktls7x35GU62YWGRQvI4y_sDY130_assertion wasGeneratedBy ECO_0000203 NP909074.RAxCcJ3Ufg-N4Y3qPVp-Ktls7x35GU62YWGRQvI4y_sDY130_provenance.
- befree-2016 importedOn "2016-02-19" NP909074.RAxCcJ3Ufg-N4Y3qPVp-Ktls7x35GU62YWGRQvI4y_sDY130_provenance.