Varaico: Literature-Extracted Genetic Variants

Gene:ENAM
Variant:p.S246*
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ENAM

NM_031889.3:p.S246*

Associated Papers

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

Altered enamelin phosphorylation site causes amelogenesis imperfecta.

Chan HC et al.

Journal of Dental Research, 2010

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

Phenotype and enamel ultrastructure characteristics in patients with ENAM gene mutations g.13185-13186insAG and 8344delG.

Pavlic A et al.

Archives of Oral Biology, 2007

Phenotype of ENAM mutations is dosage-dependent.

Ozdemir D et al.

Journal of Dental Research, 2005

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