Varaico: Literature-Extracted Genetic Variants

Gene:ABCB4
Variant:p.G527E
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ABCB4

NM_000443.4:p.G527E

Associated Papers

A novel heterozygous deletion in ABCB4 gene in a Chinese family with intrahepatic cholestasis of pregnancy, neonatal hyperbilirubinemia, and cholelithiasis: Case reports and literature review.

Zheng Y et al.

Molecular Genetics & Genomic Medicine, 2024

Intrahepatic cholestasis of pregnancy and theory of inheritance of the disease. Literature review.

Niemyjska-Dmoch W et al.

The Journal of Maternal-fetal & Neonatal Medicine : the Official Journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians, 2023

Resequencing the Yaroslavl cattle genomes reveals signatures of selection and a rare haplotype on BTA28 likely to be related to breed phenotypes.

Ruvinskiy D et al.

Animal Genetics, 2022

35711120 (PubMed )
Supplement: AGE-53-680-s003.xlsx › TableS6

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.

Liu X et al.

Frontiers in Genetics, 2022

36046230 (PubMed )
Supplement: Table3.XLSX › Sheet1

Whole-exome sequencing identifies novel mutations in ABC transporter genes associated with intrahepatic cholestasis of pregnancy disease: a case-control study.

Liu X et al.

Bmc Pregnancy and Childbirth, 2021

Whole-exome sequencing reveals ANO8 as a genetic risk factor for intrahepatic cholestasis of pregnancy.

Liu X et al.

Bmc Pregnancy and Childbirth, 2020

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."