Using metabolic abnormalities of carriers in the neonatal period to evaluate the pathogenicity of variants of uncertain significance in methylmalonic acidemia
Front Genet. 2024 Jul 15;15:1403913. doi: 10.3389/fgene.2024.1403913. eCollection 2024. ABSTRACT OBJECTIVE: To accurately verify the pathogenicity of variants of uncertain significance (VUS) in MUT and …