Varaico: Literature-Extracted Genetic Variants

Gene:AMELX
Variant:p.P81L
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AMELX

NM_001142.2:p.P81L

Associated Papers

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

Wang SK et al.

International Journal of Molecular Sciences, 2024

38892321 (PubMed )
Supplement: ijms-25-06132-s001.zip › ijms-3003435-supplementary.pdf

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

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

Duan X et al.

Journal of Dental Research, 2019

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