Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP775835.RADI81vnFLvISp1B_CyHrsGD7MpcGBG3xuPtOWPug12hc#assertion> ?p ?o ?g. }
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- assertion description "[OPA1 (Optic Atrophy-1) is involved in fusion of mitochondrial inner membrane, and its heterozygous mutations lead to early-onset and progressive dominant optic atrophy which may be complicated by other neurological symptoms including peripheral neuropathy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
- assertion evidence source_evidence_literature provenance.
- assertion SIO_000772 25847151 provenance.
- assertion wasDerivedFrom BEFREE provenance.
- assertion wasGeneratedBy ECO_0000203 provenance.