Varaico: Literature-Extracted Genetic Variants

Gene:AMELX
Variant:p.D191Y
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AMELX

NM_001142.2:p.D191Y

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

The molecular etiologies and associated phenotypes of amelogenesis imperfecta.

Wright JT

American Journal of Medical Genetics. Part A, 2006

Genes and related proteins involved in amelogenesis imperfecta.

Stephanopoulos G et al.

Journal of Dental Research, 2005

[Alteración del gen AMELX en amelogénesis imperfecta. Una breve revisión].

Tremillo-Maldonado O et al.

Gaceta Medica De Mexico, 0

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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."