Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP602615.RAdcMVdkvn0YOOVYo9eWutP0DA-ZzEgHPx3QZvsb-JBWQ130_assertion> ?p ?o ?g. }
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- NP602615.RAdcMVdkvn0YOOVYo9eWutP0DA-ZzEgHPx3QZvsb-JBWQ130_assertion type Assertion NP602615.RAdcMVdkvn0YOOVYo9eWutP0DA-ZzEgHPx3QZvsb-JBWQ130_head.
- NP602615.RAdcMVdkvn0YOOVYo9eWutP0DA-ZzEgHPx3QZvsb-JBWQ130_assertion description "[Heterozygous optic atrophy type1 (OPA1) mutations are responsible for dominant optic atrophy, and the down regulation of OPA1 expression in patients with Leber hereditary optic neuropathy may imply that Opa1 protein levels in mitochondria play a role in other spontaneous optic neuropathies as well.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP602615.RAdcMVdkvn0YOOVYo9eWutP0DA-ZzEgHPx3QZvsb-JBWQ130_provenance.
- NP602615.RAdcMVdkvn0YOOVYo9eWutP0DA-ZzEgHPx3QZvsb-JBWQ130_assertion evidence source_evidence_literature NP602615.RAdcMVdkvn0YOOVYo9eWutP0DA-ZzEgHPx3QZvsb-JBWQ130_provenance.
- NP602615.RAdcMVdkvn0YOOVYo9eWutP0DA-ZzEgHPx3QZvsb-JBWQ130_assertion SIO_000772 21552501 NP602615.RAdcMVdkvn0YOOVYo9eWutP0DA-ZzEgHPx3QZvsb-JBWQ130_provenance.
- NP602615.RAdcMVdkvn0YOOVYo9eWutP0DA-ZzEgHPx3QZvsb-JBWQ130_assertion wasDerivedFrom befree-20150227 NP602615.RAdcMVdkvn0YOOVYo9eWutP0DA-ZzEgHPx3QZvsb-JBWQ130_provenance.
- NP602615.RAdcMVdkvn0YOOVYo9eWutP0DA-ZzEgHPx3QZvsb-JBWQ130_assertion wasGeneratedBy ECO_0000203 NP602615.RAdcMVdkvn0YOOVYo9eWutP0DA-ZzEgHPx3QZvsb-JBWQ130_provenance.