Article

Strategic validation of variants of uncertain significance in<i>ECHS1</i>genetic testing

2022-10-13

Abstract excerpt

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 is a major problem. Therefore, we constructed an assay system to verify VUS function. A high-throughput assay using ECHS1 knockout cells was performed to in...

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Literature Corpus work: c2d21f51-c9bd-5490-98d5-a63371a2bc18
DOI: 10.1101/2022.10.09.22280834

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