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Visualization of SAMD12 TTTCA intronic repeats in the Integrative Genome Viewer (IGV). WGS reads visualization in IGV revealed an intronic repeat “TTTCA” in SAMD12 gene at coordinate chr8:118366817-118366914 (hg38/GRCh38) in the affected individual (B.III.19) whereas it was absent in the unaffected individual (B.III.17).
