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https://dnametabolism.com/vedo....lizumab-as-well-as-e
Methods The genomic DNA for the four patients had been screened for gene variations utilizing whole-exome sequencing (WES). The candidate alternatives were validated by direct Sanger sequencing. Quantitative PCR (qPCR) had been subsequently carried out to confirm the entire CLCNK gene removal mutation. A minigene assay and reverse transcription PCR (RT-PCR) had been performed to assess the consequence of splice variants in vitro. Results Our patients showed early beginning age wi