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Article

KIF12 Variants and Disturbed Hepatocyte Polarity in Children with a Phenotypic Spectrum of Cholestatic Liver Disease.

The Journal of pediatrics - 1 Jan 2022

Stalke Amelie, Sgodda Malte, Cantz Tobias, Skawran Britta, Lainka Elke, Hartleben Björn, Baumann Ulrich, Pfister Eva-Doreen

Abstract excerpt

KIF12 has been identified as a cholestasis-associated candidate gene. We describe 6 cases from 4 unrelated families with diverse cholestatic phenotypes carrying 2 different homozygous KIF12 truncating variants. Immunofluorescence investigations of paraffin-embedded liver sections suggest that KIF12-associated impaired functional cell polarity may be the underlying cause.

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Source

Identifiers

PMID: 34555379
DOI: 10.1016/j.jpeds.2021.09.019

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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