Varaico: Literature-Extracted Genetic Variants

Gene:FAM83H
Variant:p.E659*
Back to variants list

FAM83H

NM_198488.5:p.E659*

Associated Papers

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

Kamps R et al.

Molecular Genetics & Genomic Medicine, 2025

Tooth ultrastructure changes induced by a nonsense mutation in the FAM83H gene: insights into the diversity of amelogenesis imperfecta.

Tan L et al.

Clinical Oral Investigations, 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

A novel FAM83H variant causes familial amelogenesis imperfecta with incomplete penetrance.

Bai RQ et al.

Molecular Genetics & Genomic Medicine, 2022

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."