Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1067380.RAo3WpMVfcefquNMcCoYnMyjfAoBsefVV2XQaxduoeac0130_assertion> ?p ?o ?g. }
Showing items 1 to 6 of
6
with 100 items per page.
- NP1067380.RAo3WpMVfcefquNMcCoYnMyjfAoBsefVV2XQaxduoeac0130_assertion type Assertion NP1067380.RAo3WpMVfcefquNMcCoYnMyjfAoBsefVV2XQaxduoeac0130_head.
- NP1067380.RAo3WpMVfcefquNMcCoYnMyjfAoBsefVV2XQaxduoeac0130_assertion description "[In this paper, we document two cases of a new SETX mutation (820:A>G) combined with an established recessive SETX mutation (5927:T>G) causing ataxia with oculomotor apraxia type 2 (AOA2).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1067380.RAo3WpMVfcefquNMcCoYnMyjfAoBsefVV2XQaxduoeac0130_provenance.
- NP1067380.RAo3WpMVfcefquNMcCoYnMyjfAoBsefVV2XQaxduoeac0130_assertion evidence source_evidence_literature NP1067380.RAo3WpMVfcefquNMcCoYnMyjfAoBsefVV2XQaxduoeac0130_provenance.
- NP1067380.RAo3WpMVfcefquNMcCoYnMyjfAoBsefVV2XQaxduoeac0130_assertion SIO_000772 23566282 NP1067380.RAo3WpMVfcefquNMcCoYnMyjfAoBsefVV2XQaxduoeac0130_provenance.
- NP1067380.RAo3WpMVfcefquNMcCoYnMyjfAoBsefVV2XQaxduoeac0130_assertion wasDerivedFrom befree-2016 NP1067380.RAo3WpMVfcefquNMcCoYnMyjfAoBsefVV2XQaxduoeac0130_provenance.
- NP1067380.RAo3WpMVfcefquNMcCoYnMyjfAoBsefVV2XQaxduoeac0130_assertion wasGeneratedBy ECO_0000203 NP1067380.RAo3WpMVfcefquNMcCoYnMyjfAoBsefVV2XQaxduoeac0130_provenance.