Mutations in SLC25A46, encoding a UGO1-like protein, cause an optic atrophy spectrum disorder.
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Nat Genet. 2015 Aug;47(8):926-32. doi: 10.1038/ng.3354. Epub 2015 Jul 13.
Nat Genet. 2015.
PMID: 26168012
Free PMC article.