https://www.selleckchem.com/pr....oducts/Vorinostat-sa
Base on the American College of Medical Genetics (ACMG) guidelines, 8 likely pathogenic and 13 pathogenic variants were determined. The functional consequences of these mutant variants were predicted through in silico programs. Of the 21 mutant variants in ABCA4, two novel coding variants c.3017G A and c.5167 T C and one novel null variant c.3051-1G A were detected in three unrelated probands. By panel-based NGS, 21 ABCA4 variants were confirmed in 12 unrelated Han Chinese families. Among them, 3 novel mutant vari
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