https://www.selleckchem.com/pr....oducts/cdk2-inhibito
CONCLUSION The heterozygous variant of the HEPACAM gene probably underlies the MLC2B in this child. The variant has derived from her asymptomatic mother, which suggested incomplete penetrance of the MLC2B.OBJECTIVE To explore the genetic basis of a proband with distinctive facial features, global developmental delay, seizures and hypoplasia of corpus callosum through next generation sequencing (NGS). METHODS Genomic DNA was extracted from peripheral blood samples of the proband and his family members. Whole exome and flanking
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