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disease: Cerebroretinal microangiopathy with calcifications and cysts 1

id1351
nameCerebroretinal microangiopathy with calcifications and cysts 1
variant-disease NM_025099.6(CTC1):c.724_727del (p.Lys242fs) AND Cerebroretinal microangiopathy with calcifications and cysts 1
NM_025099.6(CTC1):c.2611G>A (p.Val871Met) AND Cerebroretinal microangiopathy with calcifications and cysts 1
NM_025099.6(CTC1):c.1994T>G (p.Val665Gly) AND Cerebroretinal microangiopathy with calcifications and cysts 1
NM_025099.6(CTC1):c.2959C>T (p.Arg987Trp) AND Cerebroretinal microangiopathy with calcifications and cysts 1
NM_025099.6(CTC1):c.3425T>A (p.Leu1142His) AND Cerebroretinal microangiopathy with calcifications and cysts 1
... 18 more