Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP892505.RAcKsz2F3vGgWSIjDV3boFFTtH5bEjnKKxteo2sSaHp6o130_assertion> ?p ?o ?g. }
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- NP892505.RAcKsz2F3vGgWSIjDV3boFFTtH5bEjnKKxteo2sSaHp6o130_assertion type Assertion NP892505.RAcKsz2F3vGgWSIjDV3boFFTtH5bEjnKKxteo2sSaHp6o130_head.
- NP892505.RAcKsz2F3vGgWSIjDV3boFFTtH5bEjnKKxteo2sSaHp6o130_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." NP892505.RAcKsz2F3vGgWSIjDV3boFFTtH5bEjnKKxteo2sSaHp6o130_provenance.
- NP892505.RAcKsz2F3vGgWSIjDV3boFFTtH5bEjnKKxteo2sSaHp6o130_assertion evidence source_evidence_literature NP892505.RAcKsz2F3vGgWSIjDV3boFFTtH5bEjnKKxteo2sSaHp6o130_provenance.
- NP892505.RAcKsz2F3vGgWSIjDV3boFFTtH5bEjnKKxteo2sSaHp6o130_assertion SIO_000772 21552501 NP892505.RAcKsz2F3vGgWSIjDV3boFFTtH5bEjnKKxteo2sSaHp6o130_provenance.
- NP892505.RAcKsz2F3vGgWSIjDV3boFFTtH5bEjnKKxteo2sSaHp6o130_assertion wasDerivedFrom befree-2016 NP892505.RAcKsz2F3vGgWSIjDV3boFFTtH5bEjnKKxteo2sSaHp6o130_provenance.
- NP892505.RAcKsz2F3vGgWSIjDV3boFFTtH5bEjnKKxteo2sSaHp6o130_assertion wasGeneratedBy ECO_0000203 NP892505.RAcKsz2F3vGgWSIjDV3boFFTtH5bEjnKKxteo2sSaHp6o130_provenance.