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disease: Osteogenesis imperfecta type 7

id5699
nameOsteogenesis imperfecta type 7
variant-disease NM_006371.4(CRTAP):c.561T>G (p.Tyr187Ter) AND Osteogenesis imperfecta type 7
NM_006371.4(CRTAP):c.471+2C>A AND Osteogenesis imperfecta type 7
NM_006371.4(CRTAP):c.88C>T (p.Arg30Cys) AND Osteogenesis imperfecta type 7
NM_006371.4(CRTAP):c.339G>C (p.Leu113=) AND Osteogenesis imperfecta type 7
NM_006371.4(CRTAP):c.1044G>A (p.Ser348=) AND Osteogenesis imperfecta type 7
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