https://www.selleckchem.com/products/uc2288.html
16p13.3 deletions encompassing ATP6V0C cause a neurodevelopmental disorder. Our results broaden the phenotypic spectrum of this disorder and clarify the likely underlying disease mechanism for the condition. Inherited retinal dystrophies (IRDs) are a group of monogenic diseases, one of the leading causes of blindness. Introducing a comprehensive genetic testing strategy by combining single gene Sanger sequencing, next-generation sequencing (NGS) including whole exome sequencing (WES), and a specific hereditary eye disease enrichment pane