Varaico: Literature-Extracted Genetic Variants

Gene:FAM20A
Variant:p.R243*
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FAM20A

NM_017565.4:p.R243*

Associated Papers

FAM20C and FAM20A in normal and ectopic mineralization: A focus on oro-renal syndromes.

Baker A et al.

Matrix Biology : Journal of the International Society for Matrix Biology, 2025

FAM20A mutations and transcriptome analyses of dental pulp tissues of enamel renal syndrome.

Wang SK et al.

International Endodontic Journal, 2023

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

Bloch-Zupan A et al.

Frontiers in Physiology, 2023

Four novel mutations of FAM20A in amelogenesis imperfecta type IG and review of literature for its genotype and phenotype spectra.

Nitayavardhana I et al.

Molecular Genetics and Genomics : Mgg, 2020

Pathognomonic oral profile of Enamel Renal Syndrome (ERS) caused by recessive FAM20A mutations.

de la Dure-Molla M et al.

Orphanet Journal of Rare Diseases, 2014

Nephrocalcinosis (enamel renal syndrome) caused by autosomal recessive FAM20A mutations.

Jaureguiberry G et al.

Nephron. Physiology, 2012

The ABCs of the atypical Fam20 secretory pathway kinases.

Worby CA et al.

The Journal of Biological Chemistry, 0

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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."