Phenotypic variability in female individuals with the NAA10 missense variants p.(L126R), p.(L126V), or p.(F128L) leading to NAA10-related syndrome
携带 NAA10 错义变异 p.(L126R)、p.(L126V) 或 p.(F128L) 的女性个体表现出表型变异，这些变异会导致 NAA10 相关综合征。
期刊:Molecular and Cellular Pediatrics
影响因子:3.4
doi:10.1186/s40348-026-00230-7
Bühler, Anja; Aigner-Radakovics, Katharina; Diofano, Federica; Marchi, Elaine; Weinmann-Emhardt, Karolina; Paquay, Amina; Lilja, Stephanie V; Rosensteiner, Bernhard; Harpell, Randie; Bernard, Ewelina; Just, Steffen; Bittner, Reginald E; Lyon, Gholson J; Kustermann, Monika
