Article

Screening rare genetic diagnoses for amenability to bespoke antisense oligonucleotide therapy development: a retrospective cohort study

2025-02-12

Abstract excerpt

<h4>ABSTRACT</h4> <h4>Purpose</h4> To estimate the proportion of molecular genetic diagnoses in a real-world, phenotypically heterogeneous patient cohort that are amenable to antisense oligonucleotide (ASO) treatment. <h4>Methods</h4> We retrospectively applied the N=1 Collaborative’s VARIANT ( V ariant A ssessments towa r ds El i gibility for An tisense Oligonucleotide T reatment) guidelines to all diagnostic var...

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Literature Corpus work: 3a6f2437-915e-52ab-a25b-7a54ffd33f5c
DOI: 10.1101/2025.02.10.25321921

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