NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 8
Definition:
References:
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[1]. David A Stroud, et al. Accessory subunits are integral for assembly and function of human mitochondrial complex I. Nature. 2016 Oct 6;538(7623):123-126. [Content Brief]
[2]. Frederic Tort, et al. Biallelic mutations in NDUFA8 cause complex I deficiency in two siblings with favorable clinical evolution. Mol Genet Metab. 2020 Nov;131(3):349-357. [Content Brief]
[3]. Yukiko Yatsuka, et al. A homozygous variant in NDUFA8 is associated with developmental delay, microcephaly, and epilepsy due to mitochondrial complex I deficiency. Clin Genet. 2020 Aug;98(2):155-165. [Content Brief]
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