Varaico: Literature-Extracted Genetic Variants

Gene:LTBP3
Variant:p.V786fs
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LTBP3

NM_001130144.3:p.V786fs

Associated Papers

Amelogenesis imperfecta: Next-generation sequencing sheds light on Witkop's classification.

Bloch-Zupan A et al.

Frontiers in Physiology, 2023

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

Genotype-phenotype correlation and expansion of orodental anomalies in LTBP3-related disorders.

Intarak N et al.

Molecular Genetics and Genomics : Mgg, 2019

Mutations in the latent TGF-beta binding protein 3 (LTBP3) gene cause brachyolmia with amelogenesis imperfecta.

Huckert M et al.

Human Molecular Genetics, 2015

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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."