Varaico: Literature-Extracted Genetic Variants

Gene:FAM83H
Variant:p.Q459*
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FAM83H

NM_198488.5:p.Q459*

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

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

FAM83H and Autosomal Dominant Hypocalcified Amelogenesis Imperfecta.

Wang SK et al.

Journal of Dental Research, 2021

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