Varaico: Literature-Extracted Genetic Variants

Gene:ENAM
Variant:p.S693*
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ENAM

NM_031889.3:p.S693*

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

ENAM Mutations Can Cause Hypomaturation Amelogenesis Imperfecta.

Wang YL et al.

Journal of Dental Research, 2024

A novel ENAM mutation causes hypoplastic amelogenesis imperfecta.

Yu S et al.

Oral Diseases, 2022

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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."