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Heterozygous variants in NOTCH2 in a cohort of juvenile and adult patients with cholestatic liver disease: Disease modifiers or innocent bystanders?

Year: 2026

Type: conference-paper

Abstract: Background and objective: Genetic cholestatic liver diseases are increasingly stratified using NGS. The resulting information can guide treatment with novel drugs such as IBAT inhibitors, which have demonstrated efficacy in congenital liver disorders including Alagille syndrome and PFIC. We hypothesised [for full text, please go to the a.m. URL]

Source: German Medical Science (German Research Foundation)

DOI: 10.3205/26vzmnrw124

Authors: Liebe, R., Stalke, A., Schmidt, H. H., Lammert, F., Krawczyk, M.

Institutions: University of Duisburg-Essen, Medizinische Hochschule Hannover

Language: English

Topic: Pediatric Hepatobiliary Diseases and Treatments

Subfield: Surgery

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: green

OpenAlex ID: W7165190505

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