Associated Papers
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
B3GALT6-linkeropathy: Three illustrative patients spanning the disease spectrum.
Coetzer KC et al.
European Journal of Medical Genetics, 2023
Mutant B3GALT6 in a Multiplex Family: A Dominant Variant Co-Segregated With Moderate Malformations.
Shen F et al.
Frontiers in Genetics, 2022
Biallelic B3GALT6 mutations cause spondylodysplastic Ehlers-Danlos syndrome.
Van Damme T et al.
Human Molecular Genetics, 2018
Select a paper to view details