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Article

Targeted sequencing identifies novel GATA6 variants in a large cohort of patients with conotruncal heart defects.

Gene - 30 Jan 2018

Zhang Erge, Hong Nanchao, Chen Sun, Fu Qihua, Li Fen, Yu Yu, Sun Kun

Abstract excerpt

Studies have highlighted the critical role of GATA6 in conotruncal heart defects (CTDs). Nevertheless, relationship between GATA6 variants and different CTDs remains largely unknown. Here GATA6 gene was screened in 542 patients with CTDs using targeted sequencing. Variant frequency was 2.0% (11/542). Three novel variants: c.86C>A (p.A29E), c.296T>A (p.V99D) and c.1254delC (p.S418fs) were identified in patients...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 29101065
DOI: 10.1016/j.gene.2017.10.083

Genes

GATA6

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

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