Varaico: Literature-Extracted Genetic Variants

Gene:LOX
Variant:p.W42*
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LOX

NM_002317.7:p.W42*

Associated Papers

Novel LOX Variants in Five Families with Aortic/Arterial Aneurysm and Dissection with Variable Connective Tissue Findings.

Van Gucht I et al.

International Journal of Molecular Sciences, 2021

Next-generation sequencing of 32 genes associated with hereditary aortopathies and related disorders of connective tissue in a cohort of 199 patients.

Renner S et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019

Systematic Review of Studies That Have Evaluated Screening Tests in Relatives of Patients Affected by Nonsyndromic Thoracic Aortic Disease.

Mariscalco G et al.

Journal of the American Heart Association, 2018

30371227 (PubMed )
Supplement: JAH3-7-e009302-s001.pdf

LOX Mutations Predispose to Thoracic Aortic Aneurysms and Dissections.

Guo DC et al.

Circulation Research, 2016

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."