Annals of Neurology · 2019 · 58 citations · 39 references
SSBP1 is an essential protein for mitochondrial DNA replication and maintenance. Our data have established pathogenic variants in SSBP1 as a cause of ADOA and variable retinal degeneration. ANN NEUROL 2019;86:368-383.
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Phenotypic Variation, Protein-coding Genetic Variation, Genetics +5