Genotypic and phenotypic analysis of 173 patients with extremely rare pathogenic mutations who applied for experimental antisense oligonucleotide treatment
Stanley T. Crooke, Tracy A. Cole, Jeffrey B. Carroll, Joseph G. Gleeson, Laurence Mignon, Julie Douville, Wendy K. Chung, Jennifer Bain, Elizabeth Berry‐Kravis, Nelson Leung, Andy Watt, Berit E. Powers, Cedrik Tekendo‐Ngongang, Stanislav Kmoch, Petr Vyleťal, Sarah Glass
The paper analyzes genotypic and phenotypic data from 173 patients with nano-rare mutations to explore genotype-phenotype relationships and the potential for antisense oligonucleotide therapy.
medRxiv · Aug 5, 2024 · PreprintGenetic & Genomic Medicine