Varaico: Literature-Extracted Genetic Variants

Gene:ENAM
Variant:p.P41_M42Splc
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ENAM

NM_031889.3:p.P41_M42Splc

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

Splicing mutations in AMELX and ENAM cause amelogenesis imperfecta.

Zhang Z et al.

Bmc Oral Health, 2023

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