Varaico: Literature-Extracted Genetic Variants

Gene:FAM20A
Variant:p.R276*
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FAM20A

NM_017565.4:p.R276*

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-Associated Amelogenesis Imperfecta: Gene Variants with Functional Verification and Histological Features.

Ding JN et al.

The Chinese Journal of Dental Research, 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

Structure of Fam20A reveals a pseudokinase featuring a unique disulfide pattern and inverted ATP-binding.

Cui J et al.

Elife, 2017

Further evidence for causal FAM20A mutations and first case of amelogenesis imperfecta and gingival hyperplasia syndrome in Morocco: a case report.

Cherkaoui Jaouad I et al.

Bmc Oral Health, 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 can cause enamel-renal syndrome (ERS).

Wang SK et al.

Plos Genetics, 2013

Novel FAM20A mutations in hypoplastic amelogenesis imperfecta.

Cho SH et al.

Human Mutation, 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."