Varaico: Literature-Extracted Genetic Variants

Gene:ENAM
Variant:p.Q157_A158Splc
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ENAM

NM_031889.3:p.Q157_A158Splc

Associated Papers

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

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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."