https://www.selleckchem.com/products/PP121.html
Glu851Lys, as well as the genetic association of PPRCA to include HK1. While PPRCA has been previously reported to be associated with CRB1 gene, no previous relationship to the HK1 gene has been described. This case describes a pathogenic variant in HK1, a gene that has been associated with RP, but has not been previously reported in association with the PPRCA phenotype. This expands the phenotypes associated with HK1 pathogenic variant, p.Glu851Lys, as well as the genetic association of PPRCA to include HK1. While PPRCA has been previous
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