Varaico: Literature-Extracted Genetic Variants

Gene:LTBP1
Variant:p.R1330Q
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LTBP1

NM_206943.4:p.R1330Q

Associated Papers

Bicuspid Aortic Valve: Old and Novel Gene Contribution to Disease Onset and Complications.

Sticchi E et al.

Diagnostics (basel, Switzerland), 2025

Genetic investigations on singleton school aged children reveal novel variants and new candidate genes for hearing loss.

Khan H et al.

Scientific Reports, 2024

39271758 (PubMed )
Supplement: 41598_2024_71407_MOESM1_ESM.xlsx › SPK9_het

The Molecular Genetics of Marfan Syndrome.

Du Q et al.

International Journal of Medical Sciences, 2021

Bicuspid Aortic Valve: Role of Multiple Gene Variants in Influencing the Clinical Phenotype.

Sticchi E et al.

Biomed Research International, 2018

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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."