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Article

Functional characterization of GATA6 genetic variants associated with mild congenital heart defects.

Biochemical and biophysical research communications - 22 Jan 2023

Wu Haoran, Wu Han, He Yuxi, Sun Weiyue, Meng Yuanhui, Wen Bin, Chu Maoping

Abstract excerpt

Damaging GATA6 variants can cause moderate congenital heart defects. With the application of next-generation sequencing approaches, various novel GATA6 variants with unknown significance have been identified from a broad spectrum of congenital heart defects. However, functional assessment for distinct GATA6 variants from different severity of congenital heart defects, especially from mild defects, is lacking,...

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PMID: 36525927
DOI: 10.1016/j.bbrc.2022.12.004

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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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