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Article

Enhancing the Predictive Power of Mutations in the C-Terminus of the KCNQ1-Encoded Kv7.1 Voltage-Gated Potassium Channel.

Journal of cardiovascular translational research - 1 Apr 2015

Kapplinger Jamie D, Tseng Andrew S, Salisbury Benjamin A, Tester David J, Callis Thomas E, Alders Marielle, Wilde Arthur A M, Ackerman Michael J

Abstract excerpt

Despite the overrepresentation of Kv7.1 mutations among patients with a robust diagnosis of long QT syndrome (LQTS), a background rate of innocuous Kv7.1 missense variants observed in healthy controls creates ambiguity in the interpretation of LQTS genetic test results. A recent study showed that the probability of pathogenicity for rare missense mutations depends in part on the topological location of the...

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Source

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Identifiers

PMID: 25854863
DOI: 10.1007/s12265-015-9622-8
PMCID: PMC4907365

Genes

KCNQ1

Provenance

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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