Varaico: Literature-Extracted Genetic Variants

Gene:AMELX
Variant:p.M1T
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AMELX

NM_001142.2:p.M1T

Associated Papers

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

Wang SK et al.

International Journal of Molecular Sciences, 2024

Splicing mutations in AMELX and ENAM cause amelogenesis imperfecta.

Zhang Z et al.

Bmc Oral Health, 2023

Molecular-based phenotype variations in amelogenesis imperfecta.

Dong J et al.

Oral Diseases, 2023

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

AMELX Gene Association with Dental Caries in Iranian Adults.

Koohpeima F et al.

International Journal of Molecular and Cellular Medicine, 2019

Ultrastructural analysis of the teeth affected by amelogenesis imperfecta resulting from FAM83H mutations and review of the literature.

Zhang C et al.

Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology, 2015

A multidisciplinary approach for the diagnosis of hypocalcified amelogenesis imperfecta in two Chilean families.

Urzúa B et al.

Acta Odontologica Scandinavica, 2012

Target gene analyses of 39 amelogenesis imperfecta kindreds.

Chan HC et al.

European Journal of Oral Sciences, 2011

A novel mutation in the AMELX gene and multiple crown resorptions.

Lee KE et al.

European Journal of Oral Sciences, 2011

Defining a new candidate gene for amelogenesis imperfecta: from molecular genetics to biochemistry.

Urzúa B et al.

Biochemical Genetics, 2011

Validation of amelogenesis imperfecta inferred from amelogenin evolution.

Delgado S 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

Exclusion of p63 as a candidate gene for autosomal-dominant amelogenesis imperfecta.

Gu X et al.

Acta Odontologica Scandinavica, 2006

Genes and related proteins involved in amelogenesis imperfecta.

Stephanopoulos G et al.

Journal of Dental Research, 2005

[Genetic, clinical and molecular analysis of a family affected by amelogenesis imperfecta].

Urzúa O B et al.

Revista Medica De Chile, 2005

Amelogenin p.M1T and p.W4S mutations underlying hypoplastic X-linked amelogenesis imperfecta.

Kim JW et al.

Journal of Dental Research, 2004

[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."