Varaico: Literature-Extracted Genetic Variants

Gene:FAM20A
Variant:p.E483fs
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FAM20A

NM_017565.4:p.E483fs

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

Deep dental phenotyping and a novel FAM20A variant in patients with amelogenesis imperfecta type IG.

Sriwattanapong K et al.

Oral Diseases, 2024

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

Enamel renal syndrome: A novel homozygous FAM20A founder mutation in 5 new Brazilian families.

Dourado MR et al.

European Journal of Medical Genetics, 2019

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."