SNUPN deficiency causes a recessive muscular dystrophy due to RNA mis-splicing and ECM dysregulationMarwan Nashabat(Koç University), Nathalie Escande‐Beillard(Koç University)Nature CommunicationsFebruary 27, 202410.1038/s41467-024-45933-5Cited by 10SaveCiteExport RISWatch citationsRelated PapersBiallelic loss-of-function variants in NEMF cause central nervous system impairment and axonal polyneuropathy|Human Genetics|2020|29Biallelic <i>NUDT2</i> variants defective in mRNA decapping cause a neurodevelopmental disease|Brain|2023|8