Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP916798.RA1nyYcqfP1MXrwUMzEYUij3mxzd_Fps_3CLE-DF9RK78130_assertion> ?p ?o ?g. }
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- NP916798.RA1nyYcqfP1MXrwUMzEYUij3mxzd_Fps_3CLE-DF9RK78130_assertion type Assertion NP916798.RA1nyYcqfP1MXrwUMzEYUij3mxzd_Fps_3CLE-DF9RK78130_head.
- NP916798.RA1nyYcqfP1MXrwUMzEYUij3mxzd_Fps_3CLE-DF9RK78130_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." NP916798.RA1nyYcqfP1MXrwUMzEYUij3mxzd_Fps_3CLE-DF9RK78130_provenance.
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- NP916798.RA1nyYcqfP1MXrwUMzEYUij3mxzd_Fps_3CLE-DF9RK78130_assertion wasDerivedFrom befree-20150227 NP916798.RA1nyYcqfP1MXrwUMzEYUij3mxzd_Fps_3CLE-DF9RK78130_provenance.
- NP916798.RA1nyYcqfP1MXrwUMzEYUij3mxzd_Fps_3CLE-DF9RK78130_assertion wasGeneratedBy ECO_0000203 NP916798.RA1nyYcqfP1MXrwUMzEYUij3mxzd_Fps_3CLE-DF9RK78130_provenance.