Article
Rare variant contribution to cholestatic liver disease in a South Asian population in the United Kingdom.
Scientific reports - 19 May 2023
Zöllner Julia, Finer Sarah, Linton Kenneth J, van Heel David A, Williamson Catherine, Dixon Peter H
Abstract excerpt
This study assessed the contribution of five genes previously known to be involved in cholestatic liver disease in British Bangladeshi and Pakistani people. Five genes (ABCB4, ABCB11, ATP8B1, NR1H4, TJP2) were interrogated by exome sequencing data of 5236 volunteers. Included were non-synonymous or loss of function (LoF) variants with a minor allele frequency < 5%. Variants were filtered, and annotated to perform...
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