Varaico: Literature-Extracted Genetic Variants

Gene:FAM83H
Variant:p.S788N
Back to variants list

FAM83H

NM_198488.5:p.S788N

Associated Papers

Integrating Imaging and Genomics in Amelogenesis Imperfecta: A Novel Diagnostic Approach.

Leban T et al.

Genes, 2025

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

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."