Varaico: Literature-Extracted Genetic Variants

Gene:ENAM
Variant:p.R179M
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ENAM

NM_031889.3:p.R179M

Associated Papers

Intra-familial phenotype variant in hypoplastic amelogenesis imperfecta under a complex genetic component: a family report, whole-exome sequencing, and literature review.

Lanza CRM et al.

Journal of Applied Oral Science : Revista Fob, 2025

A novel ENAM mutation causes hypoplastic amelogenesis imperfecta.

Yu S et al.

Oral Diseases, 2022

ENAM mutations and digenic inheritance.

Zhang H et al.

Molecular Genetics & Genomic Medicine, 2019

31478359 (PubMed )
Supplement: MGG3-7-e00928-s001.pdf

Hypoplastic AI with Highly Variable Expressivity Caused by ENAM Mutations.

Koruyucu M et al.

Journal of Dental Research, 2018

29554435 (PubMed )
Supplement: ds_10.1177_0022034518763152.pdf

ENAM mutations with incomplete penetrance.

Seymen F et al.

Journal of Dental Research, 2014

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

Evolutionary analysis of mammalian enamelin, the largest enamel protein, supports a crucial role for the 32-kDa peptide and reveals selective adaptation in rodents and primates.

Al-Hashimi N et al.

Journal of Molecular Evolution, 2009

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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."