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disease: Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects

id5377
nameMultiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects
variant-disease NM_012200.3(B3GAT3):c.175C>T (p.Arg59Ter) AND Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects
NM_001288723.1(B3GAT3):c.910-3delC AND Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects
NM_012200.3(B3GAT3):c.108C>T (p.Pro36=) AND Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects
NM_012200.3(B3GAT3):c.821C>A (p.Thr274Asn) AND Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects
NM_007255.3(B4GALT7):c.808C>T (p.Arg270Cys) AND Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects
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