Varaico: Literature-Extracted Genetic Variants

Gene:ENAM
Variant:p.N197fs
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ENAM

NM_031889.3:p.N197fs

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

Amelogenesis imperfecta: Next-generation sequencing sheds light on Witkop's classification.

Bloch-Zupan A et al.

Frontiers in Physiology, 2023

A novel ENAM mutation causes hypoplastic amelogenesis imperfecta.

Yu S et al.

Oral Diseases, 2022

ENAM mutations and digenic inheritance.

Zhang H et al.

Molecular Genetics & Genomic Medicine, 2019

Hypoplastic AI with Highly Variable Expressivity Caused by ENAM Mutations.

Koruyucu M et al.

Journal of Dental Research, 2018

A targeted next-generation sequencing assay for the molecular diagnosis of genetic disorders with orodental involvement.

Prasad MK et al.

Journal of Medical Genetics, 2016

26502894 (PubMed )
Supplement: jmedgenet-2015-103302-s1.pdf

ENAM mutations with incomplete penetrance.

Seymen F et al.

Journal of Dental Research, 2014

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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."