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A novel ELOVL4 variant, L168S, causes early childhood-onset Spinocerebellar ataxia-34 and retinal dysfunction: a case report.

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Title: A novel ELOVL4 variant, L168S, causes early childhood-onset Spinocerebellar ataxia-34 and retinal dysfunction: a case report.
Authors: Gyening, Yeboah Kofi1,2,3 (AUTHOR), Boris, Keren3,4 (AUTHOR), Cyril, Mignot3,5 (AUTHOR), Brush, Richard S.1,2,3 (AUTHOR), Nassogne, Marie-Cécile5 (AUTHOR) marie-cecile.nassogne@saintluc.uclouvain.be, Agbaga, Martin-Paul1,2,3 (AUTHOR) martin-paul-agbaga@ouhsc.edu
Source: Acta Neuropathologica Communications. 8/11/2023, Vol. 11 Issue 1, p1-10. 10p.
Database: Academic Search Ultimate
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ISSN:20515960
DOI:10.1186/s40478-023-01628-4