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Article

Phylogenetic and physicochemical analyses enhance the classification of rare nonsynonymous single nucleotide variants in type 1 and 2 long-QT syndrome.

Circulation. Cardiovascular genetics - 1 Oct 2012

Giudicessi John R, Kapplinger Jamie D, Tester David J, Alders Marielle, Salisbury Benjamin A, Wilde Arthur A M, Ackerman Michael J

Abstract excerpt

BACKGROUND: Hundreds of nonsynonymous single nucleotide variants (nsSNVs) have been identified in the 2 most common long-QT syndrome-susceptibility genes (KCNQ1 and KCNH2). Unfortunately, an ≈3% BACKGROUND: and KCNH2 nsSNVs amongst healthy individuals complicates the ability to distinguish rare p...

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Source

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Identifiers

PMID: 22949429
DOI: 10.1161/CIRCGENETICS.112.963785
PMCID: PMC3705705

Genes

KCNH2
KCNQ1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-22949429-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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