Spinocerebellar ataxia 38: structure-function analysis shows ELOVL5 G230V is proteotoxic, conformationally altered and a mutational hotspot.
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Hum Genet. 2023 Aug;142(8):1055-1076. doi: 10.1007/s00439-023-02572-y. Epub 2023 May 18.
Hum Genet. 2023.
PMID: 37199746
Free PMC article.