Varaico: Literature-Extracted Genetic Variants

Gene:AMELX
Variant:p.A40A
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AMELX

NM_182680.1:p.A40A

Associated Papers

An Intron c.103-3T>C Variant of the AMELX Gene Causes Combined Hypomineralized and Hypoplastic Type of Amelogenesis Imperfecta: Case Series and Review of the Literature

Leban T et al.

Genes, 2022

Computational approach towards identification of pathogenic missense mutations in AMELX gene and their possible association with amelogenesis imperfecta.

Shivani N et al.

Molecular Biology Research Communications, 2020

Alteration of Exon Definition Causes Amelogenesis Imperfecta.

Kim YJ et al.

Journal of Dental Research, 2020

A Novel AMELX Mutation, Its Phenotypic Features, and Skewed X Inactivation.

Duan X et al.

Journal of Dental Research, 2019

A novel AMELX mutation causes hypoplastic amelogenesis imperfecta.

Kim YJ et al.

Archives of Oral Biology, 2017

Amelogenesis Imperfecta; Genes, Proteins, and Pathways.

Smith CEL et al.

Frontiers in Physiology, 2017

Alteration of conserved alternative splicing in AMELX causes enamel defects.

Cho ES et al.

Journal of Dental Research, 2014

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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."