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Article

Identification of Novel Clinically Relevant Variants in 70 Southern Chinese patients with Thoracic Aortic Aneurysm and Dissection by Next-generation Sequencing.

Scientific reports - 30 Aug 2017

Fang Miaoxian, Yu Changjiang, Chen Siyao, Xiong Weiping, Li Xin, Zeng Rong, Zhuang Jian, Fan Ruixin

Abstract excerpt

Thoracic Aortic Aneurysm and Dissection (TAAD) is a life-threatening pathology and remains challenging worldwide. Up to 40% of TAAD are hereditary with complex heterogeneous genetic backgrounds. Recently, next-generation sequencing (NGS) has been successfully applied to identify genetic variants in an efficient and cost-effective manner. In our study, NGS coupled with DNA target-capture array was used to screen...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 28855619
DOI: 10.1038/s41598-017-09785-y
PMCID: PMC5577253

Genes

ACTA2
FBN1
MSTN
MYH11
MYLK
SLC2A10
SMAD3

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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