Varaico: Literature-Extracted Genetic Variants

Gene:ENAM
Variant:p.Q794H
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ENAM

NM_031889.3:p.Q794H

Associated Papers

Enamelin Directs Crystallite Organization at the Enamel-Dentine Junction.

Siddiqui S et al.

Journal of Dental Research, 2016

Clinical and molecular analysis of the enamelin gene ENAM in Colombian families with autosomal dominant amelogenesis imperfecta.

Gutiérrez S et al.

Genetics and Molecular Biology, 2012

Enamelin/ameloblastin gene polymorphisms in autosomal amelogenesis imperfecta among Syrian families.

Dashash M et al.

Journal of Investigative and Clinical Dentistry, 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

Identifying polymorphism in enamelin gene in amelogenesis imperfecta (AI).

Gopinath VK et al.

Archives of Oral Biology, 2008

Identification of a novel mutation in the enamalin gene in a family with autosomal-dominant amelogenesis imperfecta.

Gutierrez SJ et al.

Archives of Oral Biology, 2007

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

ENAM mutations in autosomal-dominant amelogenesis imperfecta.

Kim JW et al.

Journal of Dental Research, 2005

Novel ENAM mutation responsible for autosomal recessive amelogenesis imperfecta and localised enamel defects.

Hart TC et al.

Journal of Medical Genetics, 2003

Identification of the enamelin (g.8344delG) mutation in a new kindred and presentation of a standardized ENAM nomenclature.

Hart PS et al.

Archives of Oral Biology, 2003

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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."