Varaico: Literature-Extracted Genetic Variants

Gene:AMELX
Variant:p.E34_N35Splc
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AMELX

NM_182680.1:p.E34_N35Splc

Associated Papers

Integrating Imaging and Genomics in Amelogenesis Imperfecta: A Novel Diagnostic Approach.

Leban T et al.

Genes, 2025

Genetic Screening of a Nonsyndromic Amelogenesis Imperfecta Patient Cohort Using a Custom smMIP Reagent for Selective Enrichment of Target Loci.

Hany U et al.

Human Mutation, 2025

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

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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."