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Fig. 5 Mis-splicing in ROs of an affected individual lead to a longer protein. RT-PCR experiments performed on ROs at 150 days from the affected individual, CIC03225, revealed a 5-nucleotide insertion, whereas the unaffected heterozygous brother, CIC03228, revealed both the 5-nucleotide insertion and the reference sequence on transcript level, as confirmed by Sanger sequencing. These findings confirmed the in silico prediction for mis-splicing of the c.910-7G>A in UBAP1L, leading most likely to a longer abnormal protein p.(Phe304Profsā92).
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