Varaico: Literature-Extracted Genetic Variants

Gene:AMELX
Variant:p.H77L
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AMELX

NM_001142.2:p.H77L

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

Target gene analyses of 39 amelogenesis imperfecta kindreds.

Chan HC et al.

European Journal of Oral Sciences, 2011

Validation of amelogenesis imperfecta inferred from amelogenin evolution.

Delgado S et al.

Journal of Dental Research, 2007

A novel missense mutation (p.P52R) in amelogenin gene causing X-linked amelogenesis imperfecta.

Kida M et al.

Journal of Dental Research, 2007

The molecular etiologies and associated phenotypes of amelogenesis imperfecta.

Wright JT

American Journal of Medical Genetics. Part A, 2006

Mutational analysis of candidate genes in 24 amelogenesis imperfecta families.

Kim JW et al.

European Journal of Oral Sciences, 2006

A nomenclature for X-linked amelogenesis imperfecta.

Hart PS et al.

Archives of Oral Biology, 2002

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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."