UCAGenomiXRichard R Copley et al.Early transcriptional similarities between two distinct neural lineages during ascidian embryogenesis 2023doi: 10.1101/2023.12.20.572557 Pathogenic DPAGT1 variants in limb‐girdle congenital myasthenic syndrome (LG‐CMS) associated with tubular aggregates and ORAI1 hypoglycosylationToutes les publicationsDominant PDX1 deficiency causes highly penetrant diabetes at different ages, associated with obesity and exocrine pancreatic deficiency: Lessons for precision medicine
