Varaico: Literature-Extracted Genetic Variants

Gene:FAM20A
Variant:p.L117fs
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FAM20A

NM_017565.4:p.L117fs

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

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

Transcriptome analysis of gingival tissues of enamel-renal syndrome.

Wang YP et al.

Journal of Periodontal Research, 2019

Periodontal disease and FAM20A mutations.

Kantaputra PN et al.

Journal of Human Genetics, 2017

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

Enamel-renal-gingival syndrome and FAM20A mutations.

Kantaputra PN et al.

American Journal of Medical Genetics. Part A, 2014

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."