Varaico: Literature-Extracted Genetic Variants

Gene:FAM20A
Variant:p.Q34_L35del2
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FAM20A

NM_017565.4:p.Q34_L35del2

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

The craniofacial, dental and systemic manifestations of Enamel Renal Syndrome: A Scoping review.

Roomaney IA et al.

European Journal of Medical Genetics, 2025

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

Transcriptome analysis of gingival tissues of enamel-renal syndrome.

Wang YP et al.

Journal of Periodontal Research, 2019

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

26502894 (PubMed )
Supplement: jmedgenet-2015-103302-s1.pdf
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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."