Associated Papers
B3GALT6 mutations lead to compromised connective tissue biomechanics in Ehlers-Danlos syndrome.
Diana RM et al.
Jci Insight, 2025
Predicted deleterious variants in the human genome relevant to gene therapy with adeno-associated virus vectors.
Rostami MR et al.
Molecular Therapy. Methods & Clinical Development, 2023
38089635 (PubMed )
Supplement: mmc2.xlsx › Supplemental_Table_II
Biallelic B3GALT6 mutations cause spondylodysplastic Ehlers-Danlos syndrome.
Van Damme T et al.
Human Molecular Genetics, 2018
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