Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP818248.RAaa7QQ5LeWBpxp0-L5r-UGNKYjUcxbMTY6H67eMHwUXc130_assertion> ?p ?o ?g. }
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- NP818248.RAaa7QQ5LeWBpxp0-L5r-UGNKYjUcxbMTY6H67eMHwUXc130_assertion type Assertion NP818248.RAaa7QQ5LeWBpxp0-L5r-UGNKYjUcxbMTY6H67eMHwUXc130_head.
- NP818248.RAaa7QQ5LeWBpxp0-L5r-UGNKYjUcxbMTY6H67eMHwUXc130_assertion description "[(i) 10/694 (1.4%) unrelated individuals with ataxia had combined CTA/CTG repeat expansions >100 compared to 1/1190 (0.08%) healthy controls (P < 0.0005); (ii) neuropsychological assessment revealed a dysexecutive syndrome among SCA 8 patients, not readily explained by motor or mood disturbance; neuropsychiatric symptoms occurred commonly; (iii) cerebellar atrophy was the only salient MRI abnormality in the patient group.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP818248.RAaa7QQ5LeWBpxp0-L5r-UGNKYjUcxbMTY6H67eMHwUXc130_provenance.
- NP818248.RAaa7QQ5LeWBpxp0-L5r-UGNKYjUcxbMTY6H67eMHwUXc130_assertion evidence source_evidence_literature NP818248.RAaa7QQ5LeWBpxp0-L5r-UGNKYjUcxbMTY6H67eMHwUXc130_provenance.
- NP818248.RAaa7QQ5LeWBpxp0-L5r-UGNKYjUcxbMTY6H67eMHwUXc130_assertion SIO_000772 18095954 NP818248.RAaa7QQ5LeWBpxp0-L5r-UGNKYjUcxbMTY6H67eMHwUXc130_provenance.
- NP818248.RAaa7QQ5LeWBpxp0-L5r-UGNKYjUcxbMTY6H67eMHwUXc130_assertion wasDerivedFrom befree-20140225 NP818248.RAaa7QQ5LeWBpxp0-L5r-UGNKYjUcxbMTY6H67eMHwUXc130_provenance.
- NP818248.RAaa7QQ5LeWBpxp0-L5r-UGNKYjUcxbMTY6H67eMHwUXc130_assertion wasGeneratedBy ECO_0000203 NP818248.RAaa7QQ5LeWBpxp0-L5r-UGNKYjUcxbMTY6H67eMHwUXc130_provenance.