Varaico: Literature-Extracted Genetic Variants

Gene:AMELX
Variant:p.W4*
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AMELX

NM_001142.2:p.W4*

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

Amelogenesis imperfecta: Next-generation sequencing sheds light on Witkop's classification.

Bloch-Zupan A et al.

Frontiers in Physiology, 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

A targeted next-generation sequencing assay for the molecular diagnosis of genetic disorders with orodental involvement.

Prasad MK et al.

Journal of Medical Genetics, 2016

26502894 (PubMed )
Supplement: jmedgenet-2015-103302-s1.pdf

Target gene analyses of 39 amelogenesis imperfecta kindreds.

Chan HC 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

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

Genes and related proteins involved in amelogenesis imperfecta.

Stephanopoulos G et al.

Journal of Dental Research, 2005

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

Kim JW et al.

Journal of Dental Research, 2004

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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."