Varaico: Literature-Extracted Genetic Variants

Gene:FAM20A
Variant:p.F305_F306delFs
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FAM20A

NM_017565.4:p.F305_F306delFs

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

Periodontitis treatment and microbiome in a patient with FAM20A mutation: Case study of 1.5 years.

Tay JRH et al.

Clinical Advances in Periodontics, 2025

Pan-Cancer Exome-wide analysis of germline mutational patterns and pathways.

Alnaqbi H et al.

Scientific Reports, 2025

40594066 (PubMed )
Supplement: 41598_2025_5296_MOESM2_ESM.xlsx › Supplementary_Table_1

FAM20A mutations and transcriptome analyses of dental pulp tissues of enamel renal syndrome.

Wang SK et al.

International Endodontic Journal, 2023

Amelogenesis imperfecta: Next-generation sequencing sheds light on Witkop's classification.

Bloch-Zupan A et al.

Frontiers in Physiology, 2023

Prospect of genetic disorders in Saudi Arabia.

Alqahtani AS et al.

Frontiers in Genetics, 2023

37799141 (PubMed )
Supplement: Table1.xlsx › Supplementary_table_1._

Two new families with enamel renal syndrome: A novel FAM20A gene mutation and review of literature.

Hassib NF et al.

European Journal of Medical Genetics, 2020

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

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

Enamel-renal-gingival syndrome and FAM20A mutations.

Kantaputra PN et al.

American Journal of Medical Genetics. Part A, 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."