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Article

Germline hereditary, somatic mutations and microRNAs targeting-SNPs in congenital heart defects.

Journal of molecular and cellular cardiology - 1 Jul 2013

Sabina Saverio, Pulignani Silvia, Rizzo Milena, Cresci Monica, Vecoli Cecilia, Foffa Ilenia, Ait-Ali Lamia, Pitto Letizia, Andreassi Maria Grazia

Abstract excerpt

Somatic mutations and dysregulation by microRNAs (miRNAs) may have a pivotal role in the Congenital Heart Defects (CHDs). The purpose of the study was to assess both somatic and germline mutations in the GATA4 and NKX2.5 genes as well as to identify 3'UTR single nucleotide polymorphisms (SNPs) in the miRNA target sites. We enrolled 30 patients (13 males; 13.4±8.3 years) with non-syndromic CHD. GATA4 and NKX2.5...

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Source

Identifiers

PMID: 23583740
DOI: 10.1016/j.yjmcc.2013.04.002

Genes

GATA4

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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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