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Q39486694-E147953F-3D09-4205-A14F-09598C91E12B
Q39486694-E147953F-3D09-4205-A14F-09598C91E12B
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http://www.wikidata.org/entity/statement/Q39486694-E147953F-3D09-4205-A14F-09598C91E12B
Mini-Exome Coupled to Read-Depth Based Copy Number Variation Analysis in Patients with Inherited Ataxias.
P2860
Q39486694-E147953F-3D09-4205-A14F-09598C91E12B
BestRank
Statement
http://www.wikidata.org/entity/statement/Q39486694-E147953F-3D09-4205-A14F-09598C91E12B
rank
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type
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Statement
wasDerivedFrom
64277945e6d1d03692a141e45b5b4c3f9dcd250b
P2860
Mutations in the tricarboxylic acid cycle enzyme, aconitase 2, cause either isolated or syndromic optic neuropathy with encephalopathy and cerebellar atrophy.