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Article

A novel homozygous frameshift variant in the ABCC2-gene in Dubin-Johnson syndrome may predispose to chronic liver disease.

Indian journal of gastroenterology : official journal of the Indian Society of Gastroenterology - 1 Feb 2021

Philips Cyriac Abby, Agarwal Meenal, Rajesh Sasidharan, Ahamed Rizwan, Augustine Philip

Abstract excerpt

Dubin-Johnson syndrome (DJS), an autosomal recessive disorder presenting with conjugated hyperbilirubinemia, is not associated with progression to chronic liver disease (CLD). Next-generation sequencing, application of bioinformatics pipeline, and segregation analysis were performed on 8 members of a consanguineous family with DJS and CLD. A novel variant, c.4406_4407delTA (p.Leu1469fs), in the ABCC2-gene in a...

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PMID: 33428121
DOI: 10.1007/s12664-020-01121-z

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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