Varaico: Literature-Extracted Genetic Variants

Gene:LTBP3
Variant:p.D616Splc
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LTBP3

NM_001130144.3:p.D616Splc

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

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

Intarak N et al.

Molecular Genetics and Genomics : Mgg, 2019

Mutations in LTBP3 cause acromicric dysplasia and geleophysic dysplasia.

McInerney-Leo AM et al.

Journal of Medical Genetics, 2016

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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."