Varaico: Literature-Extracted Genetic Variants

Gene:FAM20C
Variant:p.Y369_Y370insFs
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FAM20C

NM_020223.4:p.Y369_Y370insFs

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

FAM20C Overview: Classic and Novel Targets, Pathogenic Variants and Raine Syndrome Phenotypes.

Palma-Lara I et al.

International Journal of Molecular Sciences, 2021

Nonlethal Raine Syndrome in a Newborn Boy Caused by a Novel FAM20C Variant.

Eras N et al.

Molecular Syndromology, 2021

Raine syndrome: Prenatal diagnosis based on recognizable fetal facial features and characteristic intracranial calcification.

El-Dessouky SH et al.

Prenatal Diagnosis, 2020

A Rare Cause of Hypophosphatemia: Raine Syndrome Changing Clinical Features with Age.

Eltan M et al.

Calcified Tissue International, 2020

Non-lethal Raine Syndrome in a Middle-Aged Woman Caused by a Novel FAM20C Mutation.

Mamedova E et al.

Calcified Tissue International, 2019

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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."