Varaico: Literature-Extracted Genetic Variants

Gene:ENAM
Variant:p.L420insFs
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ENAM

NM_031889.3:p.L420insFs

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

Defining a new candidate gene for amelogenesis imperfecta: from molecular genetics to biochemistry.

Urzúa B et al.

Biochemical Genetics, 2011

Amelogenesis imperfecta: genotype-phenotype studies in 71 families.

Wright JT et al.

Cells, Tissues, Organs, 2011

Candidate gene strategy reveals ENAM mutations.

Kang HY et al.

Journal of Dental Research, 2009

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

Amelogenesis imperfecta due to a mutation of the enamelin gene: clinical case with genotype-phenotype correlations.

Lindemeyer RG et al.

Pediatric Dentistry, 0

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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."