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Article

A de novo mutation in KCNN3 associated with autosomal dominant idiopathic non-cirrhotic portal hypertension.

Journal of hepatology - 1 Apr 2016

Koot Bart G P, Alders Marielle, Verheij Joanne, Beuers Ulrich, Cobben Jan M

Abstract excerpt

Non-cirrhotic portal hypertension is characterized by histopathological abnormalities in the liver, mostly affecting small intrahepatic portal veins that cause portal hypertension in the absence of cirrhosis. It can be secondary to coagulation disorders or toxic agents. However, most cases are idiopathic non-cirrhotic portal hypertension (INCPH) and familial cases are rare. We report a family in which a father...

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Source

Identifiers

PMID: 26658685
DOI: 10.1016/j.jhep.2015.11.027

Genes

KCNN3

Variants

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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