Genetic & Genomic MedicinemedRxivPreprint
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…·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.
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