Ehlers Danlos Syndrome Variant Database
LOVD v.2.0 Build 36 [
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Please select a gene database:
ADAMTS2 (ADAM metallopeptidase with thrombospondin type 1 motif, 2)
AEBP1 (AE binding protein 1)
B3GALT6 (beta-1,3-galactosyltransferase 6)
B4GALT7 (xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7)
CHST14 (carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14)
COL3A1 (collagen, type III, alpha 1)
COL5A1 (collagen, type V, alpha 1)
COL5A2 (collagen, type V, alpha 2)
DSE (dermatan sulfate epimerase)
FKBP14 (FK506 binding protein 14)
PLOD1 (procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1)
PLOD3 (procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3)
TNXB (tenascin XB)
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LOVD v.2.0
Build 36
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Leiden University Medical Center