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Sanger sequencing for segregation of BBOX1 variants in Patient 2 was performed in the Rare Disease Discovery Hub project ( Serum and dried blood spot acylcarnitine profile Acylcarnitine profiles were tested in serum and dried blood spot samples at the Biochemical Genetics Laboratory at BC Childrens Hospital according to the standard clinical protocols

10.1371/journal.ppat.1005954 220 WangX.HaiC

Cai L, Sutter BM, Li B, Tu BP

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