Article

Genotypic and phenotypic analysis of 173 patients with extremely rare pathogenic mutations who applied for experimental antisense oligonucleotide treatment

2024-08-06

Abstract excerpt

<h4>ABSTRACT</h4> Recent advances in “omics” technologies allow for the identification of an increasing number of individuals with diseases caused by nano-rare mutations. These difficult-to-diagnose individuals are uniquely disadvantaged and pose significant challenges to healthcare systems and society. Despite having diseases caused by actionable single gene mutations, in many cases, there is no commercial path...

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Literature Corpus work: 9fb4de55-48ad-5b20-aac7-61ceee0a8fc9
DOI: 10.1101/2024.08.05.24310862

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