Associated Papers
Benchmarking RNA-seq Tools for Real-World Diagnostic Applications.
Silverstein S et al.
Medrxiv : the Preprint Server for Health Sciences, 2026
41646813 (PubMed )
Supplement: media-3.xlsx › Table_S5
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
Causative variant profile of collagen VI-related dystrophy in Japan.
Inoue M et al.
Orphanet Journal of Rare Diseases, 2021
Clinical, Pathologic, and Genetic Features of Collagen VI-Related Myopathy in Korea.
Lee JH et al.
Journal of Clinical Neurology (seoul, Korea), 2017
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
Select a paper to view details