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Clinical, Immunohistochemical, and Genetic Characterization of Splice-Altering Biallelic DES Variants: Therapeutic Implications.

Janelle Geist Hauserman,Chamindra G. Laverty,Sandra Donkervoort,Ying Hu,Sarah Silverstein,Sarah B. Neuhaus,Dimah Saade,Gabrielle Vaughn,Denise Malicki,Rupleen Kaur,Yuesheng Li, Yan Luo,Poching Liu,Patrick Burr,A. Reghan Foley,Payam Mohassel,Carsten G. Bonnemann

Human Genetics and Genomics Advances（2024）

Cited 0|Views27
Key words
desmin,skeletal myopathy,cardiomyopathy,phosphorodiamidate morpholino oligomer,fibroblast transdifferentiation,RNAseq
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