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Article

Predisposition to atrioventricular septal defects may be caused by SOX7 variants that impair interaction with GATA4.

Molecular genetics and genomics : MGG - 1 May 2022

Li Baolei, Li Zhuoyan, Yang Jianping, Hong Nanchao, Jin Lihui, Xu Yuejuan, Fu Qihua, Sun Kun, Yu Yu, Lu Yanan, Chen Sun

Abstract excerpt

Atrioventricular septal defects (AVSD) are a complicated subtype of congenital heart defects for which the genetic basis is poorly understood. Many studies have demonstrated that the transcription factor SOX7 plays a pivotal role in cardiovascular development. However, whether SOX7 single nucleotide variants are involved in AVSD pathogenesis is unclear. To explore the potential pathogenic role of SOX7 variants,...

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Identifiers

PMID: 35260939
DOI: 10.1007/s00438-022-01859-5

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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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