Varaico: Literature-Extracted Genetic Variants

Gene:LTBP3
Variant:p.G44delFs
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LTBP3

NM_001130144.3:p.G44delFs

Associated Papers

Brachyolmia, dental anomalies and short stature (DASS): Phenotype and genotype analyses of Egyptian and Pakistani patients.

Nawaz H et al.

Heliyon, 2024

Novel LTBP3 mutations associated with thoracic aortic aneurysms and dissections.

Zhu G et al.

Orphanet Journal of Rare Diseases, 2021

Overexpression of miR-1306-5p, miR-3195, and miR-3914 Inhibits Ameloblast Differentiation through Suppression of Genes Associated with Human Amelogenesis Imperfecta.

Yoshioka H et al.

International Journal of Molecular Sciences, 2021

33672174 (PubMed )
Supplement: ijms-22-02202-s001.zip › Supplementary_Table_S4-1_Final_021921.xlsx › Table_S3.1

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

Intarak N et al.

Molecular Genetics and Genomics : Mgg, 2019

LTBP3 Pathogenic Variants Predispose Individuals to Thoracic Aortic Aneurysms and Dissections.

Guo DC et al.

American Journal of Human Genetics, 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."