https://cdksignal.com/index.ph....p/real-world-benefit
A proband had been recruited who was clinically determined to have permanent neonatal diabetes on his first day after birth. Their clinical and follow-up information were collected for decade. Most of the household members were given an oral glucose tolerance test. Entire exome sequencing had been performed in the proband, therefore the genomic DNA of family members ended up being used for verification by first-generation Sanger sequencing technology. The pathogenic variant was screened acc
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