Matches in Nanopublications for { ?s ?p "[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."@en ?g. }
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- 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." provenance.
- 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." provenance.
- NP7440.RAZrFCzC5cSq9Fc0HsAnzWDkgS0zCs98pU4j3qKOm-jjA130_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." NP7440.RAZrFCzC5cSq9Fc0HsAnzWDkgS0zCs98pU4j3qKOm-jjA130_provenance.
- 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.