https://www.selleckchem.com/pr....oducts/taurocholic-a
According to the genetic variant guidelines of American College of Medical Genetics and Genomics, SLC35A2 gene c.335CA (p.Thr112Lys) variant was predicted to be likely pathogenic (PS2+PM2+PP3). The variant of SLC35A2 gene c.335CA(p.Thr112Lys) may be the cause of the disease in the child. A(p.Thr112Lys) may be the cause of the disease in the child. To analyze the clinical phenotype and pathogenic variant in a child diagnosed with mental retardation and microcephaly with pontine and cerebellar hypoplas
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