Strategic validation of variants of uncertain significance in ECHS1 genetic testing
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DOI: 10.1101/2022.10.09.22280834
Abstract: ECHS1 is the causative gene for mitochondrial short-chain enoyl-CoA hydratase 1 deficiency. While genetic analysis studies have diagnosed numerous cases with ECHS1 variants, the increasing number of variants of uncertain significance (VUS) in genetic diagnosis… read more here.
Keywords: echs1; strategic validation; validation; uncertain significance ... See more keywords