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COL1A1 gene displaying the frameshift variant identified in the patient. Each box corresponds to 1 of 51 exons of COL1A1. The figure was created using ProteinPaint (https://proteinpaint.stjude.org). Matching protein domains: von Willebrand factor type C domain (red), collagen triple helix repeat (violet), fibrillar collagen C-terminal domain (blue).
