Biallelic GGGCC repeat expansion leading to NAXE-related mitochondrial encephalopathy.
Ozaki K, Yatsuka Y, Oyazato Y, Nishiyama A, Nitta KR, Kishita Y, Fushimi T, Shimura M, Noma S, Sugiyama Y, Tagami M, Fukunaga M, Kinoshita H, Hirata T, Suda W, Murakawa Y, Carninci P, Ohtake A, Murayama K, Okazaki Y.
Ozaki K, et al. Among authors: nishiyama a.
NPJ Genom Med. 2024 Oct 25;9(1):48. doi: 10.1038/s41525-024-00429-5.
NPJ Genom Med. 2024.
PMID: 39455596
Free PMC article.