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Article

Molecular mechanisms of Ellis‑van Creveld gene variations in ventricular septal defect.

Molecular medicine reports - 1 Jan 2018

Liu Fadi, Liu Xiao, Xu Zhenyan, Yuan Ping, Zhou Qiongqiong, Jin Jiejing, Yan Xia, Xu Zixuan, Cao Qing, Yu Jianhua, Cheng Yingzhang, Wan Rong, Hong Kui

Abstract excerpt

The Ellis-van Creveld (EVC) gene is associated with various congenital heart diseases. However, studies on EVC gene variations in ventricular septal defect (VSD) and the underlying molecular mechanisms are sparse. The present study detected 11 single‑nucleotide polymorphisms (SNPs) in 65 patients with VSD and 210 control patients from the Chinese Han population. Of the identified SNPs only the c.1727G>A SNP site...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 29257216
DOI: 10.3892/mmr.2017.8088
PMCID: PMC5780092

Genes

EVC
SAG

Variants

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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