Varaico: Literature-Extracted Genetic Variants

Gene:AMELX
Variant:p.P52fs
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AMELX

NM_182680.1:p.P52fs

Associated Papers

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

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

Duan X et al.

Journal of Dental Research, 2019

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