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A humanized knock-in Col6a1 mouse recapitulates a deep-intronic splice-activating variant.

Autor: Bolduc V; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD., Guirguis F; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD., Lubben B; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD., Trank L; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD., Silverstein S; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD., Brull A; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD., Nalls M; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD., Cheng J; NHGRI Transgenic and Gene Editing Core, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD., Garrett L; NHGRI Transgenic and Gene Editing Core, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD., Bönnemann CG; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD.

Publikováno v: BioRxiv : the preprint server for biology [bioRxiv] 2024 Mar 22. Date of Electronic Publication: 2024 Mar 22.