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Optic neuropathy linked to ACAD9 pathogenic variants: A potentially riboflavin-responsive disorder?
UploadPathogenic variants in IMPG1 cause autosomal dominant and autosomal recessive retinitis pigmentosa
UploadDominant mutations in mtDNA maintenance gene SSBP1 cause optic atrophy and foveopathy
Download from doi.orgNeuroradiological findings expand the phenotype of OPA1-related mitochondrial dysfunction
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