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Published in 2018 at "European Journal of Human Genetics"
DOI: 10.1038/s41431-018-0235-y
Abstract: Inherited optic neuropathies are a clinically heterogeneous group of disorders that can be caused by variants in both the nuclear and mitochondrial genomes. MtDNA variants (Table 1) show strict maternal inheritance whereas nuclear variants can…
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Keywords:
utility gene;
clinical utility;
gene card;
inherited optic ... See more keywords