https://www.selleckchem.com/pr....oducts/AZD2281(Olapa
3134C T (p.Ser1045Leu) and c.3846+1G A, c.3547C T (p.Arg1183Trp) and c.1841+3A G, c.3436G A (p.Ala1146Thr) and c.2212-10A G, c.3436G A (p.Ala1146Thr) and c.2266C T (p.Gln756*), c.1238_1239insC (p.Leu414Serfs*28) and c.3130A G (p.Thr1044Ala). RT-PCR confirmed that the splicing variants indeed led to abnormal splicing. Missense variants p.Thr1044Ala, p.Ser1045Leu, p.Ala1146Thr, p.Arg1183Trp and c.3846+1G A are located in Patatin-like phospholipase (Pat) domain. In conclusion, we
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