Varaico: Literature-Extracted Genetic Variants

Gene:FAM83H
Variant:p.Q457*
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FAM83H

NM_198488.5:p.Q457*

Associated Papers

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

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

Fam83h null mice support a neomorphic mechanism for human ADHCAI.

Wang SK et al.

Molecular Genetics & Genomic Medicine, 2016

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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."