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Article

Clinical outcomes of ABCB4 heterozygosity in infants and children with cholestatic liver disease.

Journal of pediatric gastroenterology and nutrition - 1 Feb 2024

Hegarty Robert, Gurra Olivia, Tarawally Jenneh, Allouni Sammi, Rahman Obydur, Strautnieks Sandra, Kyrana Eirini, Hadzic Nedim, Thompson Richard J, Grammatikopoulos Tassos

Abstract excerpt

OBJECTIVES: Biallelic variants in the adenosine triphosphate binding cassette subfamily B member 4 (ABCB4) gene which encodes the multidrug resistance 3 protein (MDR3) leads to progressive familiar intrahepatic cholestasis type 3. However, monoallelic variants are increasingly recognized as contributing to liver disease in adults. Our aim was to describe the clinical characteristics of MDR3 heterozygous variants...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 38374565
DOI: 10.1002/jpn3.12080

Genes

ABCB4

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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