https://www.selleckchem.com/pr....oducts/Rapamycin.htm
Conclusion The patient's condition may be attributed to the novel de novo missense variant c.149AG (p.Tyr50Cys) of the CSNK2A1 gene.Objective To explore the clinical features and genetic basis for a patient with hereditary hypophosphatemic rickets with hypercalciuria(HHRH). Methods Clinical data of the patient was collected. The patient was subjected to whole exome capture and next generation sequencing (NGS). Suspected variants were verified by Sanger sequencing. Results The patient presented with hypophosphatemic rickets, short
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