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
Clinical and Molecular Profiles of a Cohort of Egyptian Patients with Collagen VI-Related Dystrophy.
Sharaf-Eldin WE et al.
Journal of Molecular Neuroscience : Mn, 2024
Collagen VI-related myopathy: Expanding the clinical and genetic spectrum.
Kim SY et al.
Muscle & Nerve, 2018
Clinical, Pathologic, and Genetic Features of Collagen VI-Related Myopathy in Korea.
Lee JH et al.
Journal of Clinical Neurology (seoul, Korea), 2017
Utility of next generation sequencing in genetic diagnosis of early onset neuromuscular disorders.
Chae JH et al.
Journal of Medical Genetics, 2015
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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