https://www.selleckchem.com/pr....oducts/Imatinib-Mesy
The variant is localized at the first nucleotide of intron 3 and was not detected among in-house healthy controls. This variant was not reported in genetic databases and predicted to potentially alter the 5' donor splice site and disease causing using online prediction tools. It was classified as a likely pathogenic variant according to ACMG standards and guidelines. This is the first report that demonstrates c.423+1 GA variant in the SCARB2 gene segregating with the phenotype of EPM4 in a consanguineous Iranian family. A
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