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Distribution of gene variants in all patients (A) children (B) and adults (C) with idiopathic primary osteoporosis
Absence or presence of non-pathogenic variants are represented in white, variant of unknown significance (VUS) in grey, p.(Val667Met) LRP5 variant in orange and pathogenic variants in blue/green. If a patient had two variants, the most pathogenic was taken into account when classifying the mutations.
