GENETIC ENCYCLOPEDIA
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disease: Blue rubber bleb nevus

id1041
nameBlue rubber bleb nevus
variant-disease NM_053274.3(GLMN):c.1630G>T (p.Glu544Ter) AND Blue rubber bleb nevus
NM_053274.3(GLMN):c.761C>G (p.Pro254Arg) AND Blue rubber bleb nevus