Whole-exome sequencing expands the roles of novel mutations of organic anion transporting polypeptide, atp-binding cassette transporter, and receptor genes in intrahepatic cholestasis of pregnancy

HIGHLIGHTS

• who: ICP et al. from the Sichuan University, China have published the paper: Whole-exome sequencing expands the roles of novel mutations of organic anion transporting polypeptide, ATP-binding cassette transporter, and receptor genes in intrahepatic cholestasis of pregnancy, in the Journal: (JOURNAL)
• what: Given the aforementioned background, the authors aimed to systematically identify mutations associated with bile acid transporters and receptor genes in 249 ICP individuals. The authors identified two novel missense mutations at positions 681 (Ile681Lys) and 688 (Met688Thr). This study has 3 major strengths. Considering the number of ICP samples, the focus . . .
  

   

  

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