Varaico: Literature-Extracted Genetic Variants

Gene:AMELX
Variant:p.P158fs
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AMELX

NM_182680.1:p.P158fs

Associated Papers

Amelogenesis imperfecta: Analysis of the genetic basis and treatment with a digital workflow: A clinical report.

Klein P et al.

The Journal of Prosthetic Dentistry, 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

AMELX Mutations and Genotype-Phenotype Correlation in X-Linked Amelogenesis Imperfecta.

Wang SK et al.

International Journal of Molecular Sciences, 2024

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

Bloch-Zupan A et al.

Frontiers in Physiology, 2023

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

Duan X et al.

Journal of Dental Research, 2019

Amelogenesis Imperfecta; Genes, Proteins, and Pathways.

Smith CEL et al.

Frontiers in Physiology, 2017

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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."