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Article

Functional variant in microRNA-196a2 contributes to the susceptibility of congenital heart disease in a Chinese population.

Human mutation - 1 Aug 2009

Xu Jing, Hu Zhibin, Xu Zhengfeng, Gu Haiyong, Yi Long, Cao Hailong, Chen Jiaping, Tian Tian, Liang Jie, Lin Ying, Qiu Wanshan, Ma Hongxia, Shen Hongbing, Chen Yijiang

Abstract excerpt

Hox gene clusters play an important role during cardiac septation to valve formation in different species, and the miR-196a-HOXB8-Sonic hedgehog signaling pathway is of particular interest. Recently, we found that a genetic variant of rs11614913 in the miR-196a2 sequence could alter mature miR-196a expression and target mRNA binding; this observation led us to hypothesize that rs11614913 might influence...

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Source

Identifiers

PMID: 19514064
DOI: 10.1002/humu.21044

Genes

HOXB8

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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