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Article

Ankyrin-B syndrome: enhanced cardiac function balanced by risk of cardiac death and premature senescence.

PloS one - 17 Oct 2007

Mohler Peter J, Healy Jane A, Xue Hui, Puca Annibale A, Kline Crystal F, Allingham R Rand, Kranias Evangelia G, Rockman Howard A, Bennett Vann

Abstract excerpt

Here we report the unexpected finding that specific human ANK2 variants represent a new example of balanced human variants. The prevalence of certain ANK2 (encodes ankyrin-B) variants range from 2 percent of European individuals to 8 percent in individuals from West Africa. Ankyrin-B variants associated with severe human arrhythmia phenotypes (eg E1425G, V1516D, R1788W) were rare in the general population....

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Identifiers

PMID: 17940615
DOI: 10.1371/journal.pone.0001051
PMCID: PMC2013943

Genes

ANK2

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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