https://www.selleckchem.com/
Based on standards and guidelines by American College of Medical Genetics and Genomics, the CYP4V2 genes c. (802-8)_810del TCATACAGGTCATCGCTinsGC and c. 958 CT (p.Arg320X) were predicted to be pathogenic variants (PVS1+PS1+PM2+PM3). The homozygous variant c. (802-8) _810delTCATACAGGTCATCGCTinsGC and the complex heterozygous variants c. (802-8) _810delTCATACAGGTCATCGCTinsGC and c.958CT (p.Arg320X) in CYP4V2 gene are the cause of the disease in the probands of two pedigrees , respectively. T (p.Arg320X) in CYP4V2 gene are the cause of the disease in t
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