Associated Papers
Collagen remodelling and plasma ascorbic acid levels in patients suspected of inherited bleeding disorders harbouring germline variants in collagen-related genes.
Fager Ferrari M et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2021
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 › ST2A-ClinVar_COL5A1
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