Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP396228.RAViaA8tmc4gEkCjh-DF5J-Nnw25yTc3rnLUJ7xtv0rE0130_assertion> ?p ?o ?g. }
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- NP396228.RAViaA8tmc4gEkCjh-DF5J-Nnw25yTc3rnLUJ7xtv0rE0130_assertion type Assertion NP396228.RAViaA8tmc4gEkCjh-DF5J-Nnw25yTc3rnLUJ7xtv0rE0130_head.
- NP396228.RAViaA8tmc4gEkCjh-DF5J-Nnw25yTc3rnLUJ7xtv0rE0130_assertion description "[The 5 new diagnoses implicated 2 genes associated with canonical mitochondrial disorders (NDUFV1, POLG2), and 3 genes known to underlie other neurologic disorders (DPYD, KARS, WFS1), underscoring the phenotypic and biochemical overlap with other inborn errors.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP396228.RAViaA8tmc4gEkCjh-DF5J-Nnw25yTc3rnLUJ7xtv0rE0130_provenance.
- NP396228.RAViaA8tmc4gEkCjh-DF5J-Nnw25yTc3rnLUJ7xtv0rE0130_assertion evidence source_evidence_literature NP396228.RAViaA8tmc4gEkCjh-DF5J-Nnw25yTc3rnLUJ7xtv0rE0130_provenance.
- NP396228.RAViaA8tmc4gEkCjh-DF5J-Nnw25yTc3rnLUJ7xtv0rE0130_assertion SIO_000772 23596069 NP396228.RAViaA8tmc4gEkCjh-DF5J-Nnw25yTc3rnLUJ7xtv0rE0130_provenance.
- NP396228.RAViaA8tmc4gEkCjh-DF5J-Nnw25yTc3rnLUJ7xtv0rE0130_assertion wasDerivedFrom befree-20140225 NP396228.RAViaA8tmc4gEkCjh-DF5J-Nnw25yTc3rnLUJ7xtv0rE0130_provenance.
- NP396228.RAViaA8tmc4gEkCjh-DF5J-Nnw25yTc3rnLUJ7xtv0rE0130_assertion wasGeneratedBy ECO_0000203 NP396228.RAViaA8tmc4gEkCjh-DF5J-Nnw25yTc3rnLUJ7xtv0rE0130_provenance.