Associated Papers
Expanding the Clinico-Genetic Scope of Bethlem Myopathy: A Family of Five Patients from Kerala.
Saibaba J et al.
Annals of Indian Academy of Neurology, 2025
"Target" and "Sandwich" Signs in Thigh Muscles have High Diagnostic Values for Collagen VI-related Myopathies.
Fu J et al.
Chinese Medical Journal, 2016
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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