Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP909074.RAxCcJ3Ufg-N4Y3qPVp-Ktls7x35GU62YWGRQvI4y_sDY130_assertion> ?p ?o ?g. }
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- NP909074.RAxCcJ3Ufg-N4Y3qPVp-Ktls7x35GU62YWGRQvI4y_sDY130_assertion type Assertion NP909074.RAxCcJ3Ufg-N4Y3qPVp-Ktls7x35GU62YWGRQvI4y_sDY130_head.
- 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.