Varaico: Literature-Extracted Genetic Variants

Gene:FAM20A
Variant:p.L117_L123delFs
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FAM20A

NM_017565.4:p.L117_L123delFs

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

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

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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."