Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP602714.RAYSn-YfwJJVCVWHi25PVpolnDh-bSZx_MApAbpz2Ieks130_assertion> ?p ?o ?g. }
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- NP602714.RAYSn-YfwJJVCVWHi25PVpolnDh-bSZx_MApAbpz2Ieks130_assertion type Assertion NP602714.RAYSn-YfwJJVCVWHi25PVpolnDh-bSZx_MApAbpz2Ieks130_head.
- NP602714.RAYSn-YfwJJVCVWHi25PVpolnDh-bSZx_MApAbpz2Ieks130_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." NP602714.RAYSn-YfwJJVCVWHi25PVpolnDh-bSZx_MApAbpz2Ieks130_provenance.
- NP602714.RAYSn-YfwJJVCVWHi25PVpolnDh-bSZx_MApAbpz2Ieks130_assertion evidence source_evidence_literature NP602714.RAYSn-YfwJJVCVWHi25PVpolnDh-bSZx_MApAbpz2Ieks130_provenance.
- NP602714.RAYSn-YfwJJVCVWHi25PVpolnDh-bSZx_MApAbpz2Ieks130_assertion SIO_000772 21552501 NP602714.RAYSn-YfwJJVCVWHi25PVpolnDh-bSZx_MApAbpz2Ieks130_provenance.
- NP602714.RAYSn-YfwJJVCVWHi25PVpolnDh-bSZx_MApAbpz2Ieks130_assertion wasDerivedFrom befree-20150227 NP602714.RAYSn-YfwJJVCVWHi25PVpolnDh-bSZx_MApAbpz2Ieks130_provenance.
- NP602714.RAYSn-YfwJJVCVWHi25PVpolnDh-bSZx_MApAbpz2Ieks130_assertion wasGeneratedBy ECO_0000203 NP602714.RAYSn-YfwJJVCVWHi25PVpolnDh-bSZx_MApAbpz2Ieks130_provenance.