Varaico: Literature-Extracted Genetic Variants

Gene:FAM20C
Variant:p.G482E
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FAM20C

NM_020223.4:p.G482E

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

Raine syndrome: Prenatally identified severe craniofacial phenotype with multisuture synostosis and brain abnormalities associated with variants in FAM20C.

Verscaj CP et al.

Prenatal Diagnosis, 2024

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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."