Associated Papers
Substitutions of nucleotides at the 3' ends of COL6A1/2/3 exons induce exon skipping associated with collagen VI-related muscular dystrophies and therapeutic strategies.
Lee SA et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2025
Precision medicine using whole genome sequencing in a cat identifies a novel COL5A1 variant for classical Ehlers-Danlos syndrome.
McElroy A et al.
Journal of Veterinary Internal Medicine, 0
37594181 (PubMed )
Supplement: JVIM-37-1716-s005.xlsx › ST2B-ClinVar_COL6A1
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