Varaico: Literature-Extracted Genetic Variants

Gene:FAM83H
Variant:p.E421*
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FAM83H

NM_198488.5:p.E421*

Associated Papers

Multiomics Data Synthesis of FAM83H in Amelogenesis Imperfecta.

Leban T et al.

International Dental Journal, 2026

Identifying a Novel Causal FAM83H Variant for Autosomal Dominant Amelogenesis Imperfecta Using Exome-Sequencing.

Kamps R et al.

Molecular Genetics & Genomic Medicine, 2025

Fam83h mutation causes mandible underdevelopment via CK1α-mediated Wnt/β-catenin signaling in male C57/BL6J mice.

He Z et al.

Bone, 2023

Amelogenesis imperfecta in a Chinese family resulting from a FAM83H variation and the effect of FAM83H on the secretion of enamel matrix proteins.

Xie Y et al.

Clinical Oral Investigations, 2023

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

Bloch-Zupan A et al.

Frontiers in Physiology, 2023

37228816 (PubMed )
Supplement: Table3.xlsx › Isolated

An Intron c.103-3T>C Variant of the AMELX Gene Causes Combined Hypomineralized and Hypoplastic Type of Amelogenesis Imperfecta: Case Series and Review of the Literature

Leban T et al.

Genes, 2022

FAM83H and Autosomal Dominant Hypocalcified Amelogenesis Imperfecta.

Wang SK et al.

Journal of Dental Research, 2021

Decreased osteogenic activity and mineralization of alveolar bone cells from a patient with amelogenesis imperfecta and FAM83H 1261G>T mutation.

Nowwarote N et al.

Genes & Diseases, 2019

Amelogenesis imperfecta: A novel FAM83H mutation and characteristics of periodontal ligament cells.

Nowwarote N et al.

Oral Diseases, 2018

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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."