Articles with "inherited optic" as a keyword



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Clinical utility gene card for: inherited optic neuropathies including next-generation sequencing-based approaches

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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… read more here.

Keywords: utility gene; clinical utility; gene card; inherited optic ... See more keywords