Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1276208.RAN2XlOCc78fBYg-rzC7iUoM0gdoEJtEeHCxjkEzaQmqg130_assertion> ?p ?o ?g. }
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- NP1276208.RAN2XlOCc78fBYg-rzC7iUoM0gdoEJtEeHCxjkEzaQmqg130_assertion type Assertion NP1276208.RAN2XlOCc78fBYg-rzC7iUoM0gdoEJtEeHCxjkEzaQmqg130_head.
- NP1276208.RAN2XlOCc78fBYg-rzC7iUoM0gdoEJtEeHCxjkEzaQmqg130_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." NP1276208.RAN2XlOCc78fBYg-rzC7iUoM0gdoEJtEeHCxjkEzaQmqg130_provenance.
- NP1276208.RAN2XlOCc78fBYg-rzC7iUoM0gdoEJtEeHCxjkEzaQmqg130_assertion evidence source_evidence_literature NP1276208.RAN2XlOCc78fBYg-rzC7iUoM0gdoEJtEeHCxjkEzaQmqg130_provenance.
- NP1276208.RAN2XlOCc78fBYg-rzC7iUoM0gdoEJtEeHCxjkEzaQmqg130_assertion SIO_000772 25847151 NP1276208.RAN2XlOCc78fBYg-rzC7iUoM0gdoEJtEeHCxjkEzaQmqg130_provenance.
- NP1276208.RAN2XlOCc78fBYg-rzC7iUoM0gdoEJtEeHCxjkEzaQmqg130_assertion wasDerivedFrom befree-2016 NP1276208.RAN2XlOCc78fBYg-rzC7iUoM0gdoEJtEeHCxjkEzaQmqg130_provenance.
- NP1276208.RAN2XlOCc78fBYg-rzC7iUoM0gdoEJtEeHCxjkEzaQmqg130_assertion wasGeneratedBy ECO_0000203 NP1276208.RAN2XlOCc78fBYg-rzC7iUoM0gdoEJtEeHCxjkEzaQmqg130_provenance.