Varaico: Literature-Extracted Genetic Variants

Gene:LTBP3
Variant:p.P689_G690del2
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LTBP3

NM_001130144.3:p.P689_G690del2

Associated Papers

Novel LTBP3 mutations associated with thoracic aortic aneurysms and dissections.

Zhu G et al.

Orphanet Journal of Rare Diseases, 2021

A Rare Case of Brachyolmia with Amelogenesis Imperfecta Caused by a New Pathogenic Splicing Variant in LTBP3.

Flex E et al.

Genes, 2021

Bi-allelic loss-of-function novel variants in LTBP3-related skeletal dysplasia: Report of first patient from India.

Kaur R et al.

American Journal of Medical Genetics. Part A, 2020

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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."