[HTML][HTML] HepG2 PMM2-CDG knockout model: A versatile platform for variant and therapeutic evaluation
A Vilas, Á Briso-Montiano, C Segovia-Falquina… - Molecular Genetics and …, 2024 - Elsevier
Abstract Phosphomannomutase 2 deficiency (PMM2-CDG), the most frequent congenital
disorder of glycosylation, is an autosomal recessive disease caused by biallelic pathogenic …
disorder of glycosylation, is an autosomal recessive disease caused by biallelic pathogenic …