Strategic validation of variants of uncertain significance in ECHS1 genetic testing.
Kishita Y, Sugiura A, Onuki T, Ebihara T, Matsuhashi T, Shimura M, Fushimi T, Ichino N, Nagatakidani Y, Nishihata H, Nitta KR, Yatsuka Y, Imai-Okazaki A, Wu Y, Osaka H, Ohtake A, Murayama K, Okazaki Y.
Kishita Y, et al. Among authors: onuki t.
J Med Genet. 2023 Oct;60(10):1006-1015. doi: 10.1136/jmg-2022-109027. Epub 2023 Apr 13.
J Med Genet. 2023.
PMID: 37055166