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Article

Cholestasis Due to USP53 Deficiency.

Journal of pediatric gastroenterology and nutrition - 1 May 2021

Bull Laura N, Ellmers Rebecca, Foskett Pierre, Strautnieks Sandra, Sambrotta Melissa, Czubkowski Piotr, Jankowska Irena, Wagner Bart, Deheragoda Maesha, Thompson Richard J

Abstract excerpt

OBJECTIVES: Although a number of genetic forms of cholestasis have been identified, the genetic etiology of disease remains unidentified in a subset of cholestasis patients. METHODS: Whole exome sequencing (WES) was performed in DNA from patients diagnosed with cholestasis, at different points on the continuum from progressive familial intrahepatic cholestasis to benign recurrent intrahepatic cholestasis, in whom...

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Identifiers

PMID: 33075013
DOI: 10.1097/MPG.0000000000002926
PMCID: PMC8549450

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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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