Varaico: Literature-Extracted Genetic Variants

Gene:FAM20A
Variant:p.R392_L393delFs
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FAM20A

NM_017565.4:p.R392_L393delFs

Associated Papers

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

Nephrocalcinosis in Amelogenesis Imperfecta Caused by the FAM20A Mutation.

Koruyucu M et al.

Nephron, 2018

FAM20A binds to and regulates FAM20C localization.

Ohyama Y et al.

Scientific Reports, 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."