A biallelic MRPL42 variant causes a combined oxidative phosphorylation deficiency syndrome revealed by multi-omics.
多组学研究揭示，MRPL42 双等位基因变异会导致联合氧化磷酸化缺乏综合征。
期刊:npj Genomic Medicine
影响因子:4.8
doi:10.1038/s41525-026-00564-1
Boschann Felix, Kopp Johannes, Römer Susanne, Küchler Oliver, Lyubenova Hristiana, von Kügelgen Nicolai, Hertstein Erik, Hagelstein Lea, Becker Christian, Becker Kerstin, Brachs Sebastian, Mai Knut, Meierhofer David, Seelow Dominik, Mundlos Stefan, Horn Denise, Schuelke Markus, Fischer-Zirnsak Björn
