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Article

Functional Analysis of Two Novel Mutations in TWIST1 Protein Motifs Found in Ventricular Septal Defect Patients.

Pediatric cardiology - 1 Dec 2015

Deng Xiaopeng, Pan Hong, Wang Jing, Wang Binbin, Cheng Zhi, Cheng Longfei, Zhao Lixi, Li Hui, Ma Xu

Abstract excerpt

The aim of this study was to investigate the possible genetic effect of sequence variations in TWIST1 on the pathogenesis of ventricular septal defect in humans. We examined the coding region of TWIST1 in a cohort of 196 Chinese people with non-syndromic ventricular septal defect patients and 200 healthy individuals as the controls. We identified two novel potential disease-associated mutations,...

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Source

Identifiers

PMID: 25981568
DOI: 10.1007/s00246-015-1202-9

Genes

TWIST1

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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