RAPSN-Associated Congenital Myasthenic Syndrome due to Biallelic Single Nucleotide Variants at the Same Position
Case Rep Genet. 2025 Oct 20;2025:1882021. doi: 10.1155/crig/1882021. eCollection 2025. ABSTRACT Biallelic pathogenic variants in RAPSN cause a form of congenital myasthenic syndrome (CMS), which …