Article

A humanized knock-in <i>Col6a1</i> mouse recapitulates a deep-intronic splice-activating variant

2024-03-22

Abstract excerpt

Antisense therapeutics such as splice-modulating antisense oligonucleotides (ASOs) are promising tools to treat diseases caused by splice-altering intronic variants. However, their testing in animal models is hampered by the generally poor sequence conservation of the intervening sequences between human and other species. Here we aimed to model in the mouse a recurrent, deep-intronic, splice-activating, COL6A1 va...

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Literature Corpus work: 93095ed8-a2ad-511f-af22-2d2231c0dda2
DOI: 10.1101/2024.03.21.581572

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