Varaico: Literature-Extracted Genetic Variants

Gene:LTBP3
Variant:p.L209fs
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LTBP3

NM_001130144.3:p.L209fs

Associated Papers

Aortic root dilatation and mitral valve prolapse in three siblings with dental anomalies and short stature syndrome due to a homozygous novel LTBP3 variant.

Biçer BB et al.

Cardiology in the Young, 2025

Novel LTBP3 mutations associated with thoracic aortic aneurysms and dissections.

Zhu G et al.

Orphanet Journal of Rare Diseases, 2021

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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."