Varaico: Literature-Extracted Genetic Variants

Gene:FAM20A
Variant:p.A432T
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FAM20A

NM_017565.4:p.A432T

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

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

A distinctive oral phenotype points to FAM20A mutations not identified by Sanger sequencing.

Poulter JA et al.

Molecular Genetics & Genomic Medicine, 2015

De novo mutations in moderate or severe intellectual disability.

Hamdan FF et al.

Plos Genetics, 2014

25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 893.339

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."