Varaico: Literature-Extracted Genetic Variants

Gene:ENAM
Variant:p.Q178del1
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ENAM

NM_031889.3:p.Q178del1

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

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

Mutational analysis of candidate genes in 24 amelogenesis imperfecta families.

Kim JW et al.

European Journal of Oral Sciences, 2006

ENAM mutations in autosomal-dominant amelogenesis imperfecta.

Kim JW et al.

Journal of Dental Research, 2005

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