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Article

Predicting the Functional Impact of KCNQ1 Variants of Unknown Significance.

Circulation. Cardiovascular genetics - 1 Oct 2017

Li Bian, Mendenhall Jeffrey L, Kroncke Brett M, Taylor Keenan C, Huang Hui, Smith Derek K, Vanoye Carlos G, Blume Jeffrey D, George Alfred L, Sanders Charles R, Meiler Jens

Abstract excerpt

BACKGROUND: An emerging standard-of-care for long-QT syndrome uses clinical genetic testing to identify genetic variants of the KCNQ1 potassium channel. However, interpreting results from genetic testing is confounded by the presence of variants of unknown significance for which there is inadequate evidence of pathogenicity. METHODS AND RESULTS: In this study, we curated from the literature a high-quality set of...

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Share to Cardiac electrophysiology and arrhythmias
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Open in PubMed Open full text

Identifiers

PMID: 29021305
DOI: 10.1161/CIRCGENETICS.117.001754
PMCID: PMC5679743

Genes

KCNQ1

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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