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Article

Disease Associated Mutations in KIR Proteins Linked to Aberrant Inward Rectifier Channel Trafficking.

Biomolecules - 25 Oct 2019

Zangerl-Plessl Eva-Maria, Qile Muge, Bloothooft Meye, Stary-Weinzinger Anna, van der Heyden Marcel A G

Abstract excerpt

The ubiquitously expressed family of inward rectifier potassium (KIR) channels, encoded by KCNJ genes, is primarily involved in cell excitability and potassium homeostasis. Channel mutations associate with a variety of severe human diseases and syndromes, affecting many organ systems including the central and peripheral neural system, heart, kidney, pancreas, and skeletal muscle. A number of mutations associate...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 31731488
DOI: 10.3390/biom9110650
PMCID: PMC6920955

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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