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Article

Use of a targeted, combinatorial next-generation sequencing approach for the study of bicuspid aortic valve.

BMC medical genomics - 26 Sept 2014

Bonachea Elizabeth M, Zender Gloria, White Peter, Corsmeier Don, Newsom David, Fitzgerald-Butt Sara, Garg Vidu, McBride Kim L

Abstract excerpt

BACKGROUND: Bicuspid aortic valve (BAV) is the most common type of congenital heart disease with a population prevalence of 1-2%. While BAV is known to be highly heritable, mutations in single genes (such as GATA5 and NOTCH1) have been reported in few human BAV cases. Traditional gene sequencing methods are time and labor intensive, while next-generation high throughput sequencing remains costly for large patient...

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Source

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Identifiers

PMID: 25260786
DOI: 10.1186/1755-8794-7-56
PMCID: PMC4181662

Genes

GATA5
NOTCH1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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