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Article

Variants of Unknown Significance in Genes Associated with Heritable Thoracic Aortic Disease Can Be Low Penetrant "Risk Variants".

American journal of human genetics - 5 Jul 2018

Kwartler Callie S, Gong Limin, Chen Jiyuan, Wang Shanzhi, Kulmacz Richard, Duan Xue-Yan, Janda Alexandra, Huang Jian, Kamm Kristine E, Stull James T, Guo Dongchuan, Milewicz Dianna M

Abstract excerpt

Thoracic aortic aneurysms leading to acute aortic dissections are a preventable cause of premature deaths if individuals at risk can be identified. Individuals with early-onset aortic dissections without a family history or syndromic features have an increased burden of rare genetic variants of unknown significance (VUSs) in genes with pathogenic variants for heritable thoracic aortic disease (HTAD). We assessed...

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Identifiers

PMID: 29961567
DOI: 10.1016/j.ajhg.2018.05.012
PMCID: PMC6035370

Genes

LOX
MYLK

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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