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CRISPR Activation Reverses Haploinsufficiency and Functional Deficits Caused by TTN Truncation Variants

ABSTRACT: TTN CRISPR activation rescued TTNtv-related functional deficits despite increasing truncated TTN levels, which provides evidence to support haploinsufficiency as a relevant genetic mechanism underlying heterozygous TTNtvs (TTN truncation variants). CRISPR activation could be developed as a therapeutic to treat a large proportion of TTNtvs.

ORGANISM(S): Homo sapiens

PROVIDER: GSE255814 | GEO | 2024/02/15

REPOSITORIES: GEO

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