Article

Consensus guidelines for eligibility assessment of pathogenic variants to antisense oligonucleotide treatments

2024-09-28

Abstract excerpt

Of the around 7,000 known rare diseases worldwide, disease-modifying treatments are available for fewer than 5%, leaving millions of individuals without specialized therapeutic strategies. In recent years, antisense oligonucleotides (ASOs) have shown promise as individualized genetic interventions for rare genetic diseases. However, there is currently no consensus on which disease-causing DNA variants are suitable...

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Literature Corpus work: afd3bb6d-9403-50f0-9e2c-8798fd9a6a02
DOI: 10.1101/2024.09.27.24314122

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