Varaico: Literature-Extracted Genetic Variants

Gene:FAM20A
Variant:p.D197Splc
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FAM20A

NM_017565.4:p.D197Splc

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 mutations and transcriptome analyses of dental pulp tissues of enamel renal syndrome.

Wang SK et al.

International Endodontic Journal, 2023

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

A targeted next-generation sequencing assay for the molecular diagnosis of genetic disorders with orodental involvement.

Prasad MK et al.

Journal of Medical Genetics, 2016

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

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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."