Varaico: Literature-Extracted Genetic Variants

Gene:FAM20A
Variant:p.G331D
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FAM20A

NM_017565.4:p.G331D

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

Periodontal disease and FAM20A mutations.

Kantaputra PN et al.

Journal of Human Genetics, 2017

Amelogenesis Imperfecta; Genes, Proteins, and Pathways.

Smith CEL et al.

Frontiers in Physiology, 2017

FAM20A binds to and regulates FAM20C localization.

Ohyama Y et al.

Scientific Reports, 2016

The secretory pathway kinases.

Sreelatha A et al.

Biochimica Et Biophysica Acta, 2015

A secretory kinase complex regulates extracellular protein phosphorylation.

Cui J et al.

Elife, 2015

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

FAM20A mutations associated with enamel renal syndrome.

Wang SK et al.

Journal of Dental Research, 2014

FAM20A mutations can cause enamel-renal syndrome (ERS).

Wang SK et al.

Plos Genetics, 2013

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."