Strategic validation of variants of uncertain significance in ECHS1 genetic testing.

Yoshihito Kishita Ayumu SugiuraTakanori OnukiTomohiro EbiharaTetsuro MatsuhashiMasaru ShimuraTakuya FushimiNoriko IchinoYoshie NagatakidaniHitomi NishihataKazuhiro R NittaYukiko YatsukaAtsuko Imai-OkazakiYibo WuHitoshi OsakaAkira Ohtake Kei Murayama Yasushi Okazaki

Published in: Journal of medical genetics (2023)

cases based on VUS validation and omics analysis; these analyses are applicable to the functional evaluation of other genes associated with mitochondrial disease.

Keyphrases

oxidative stress
copy number
single cell
data analysis