Varaico: Literature-Extracted Genetic Variants

Gene:FAM20C
Variant:p.G379E
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FAM20C

NM_020223.4:p.G379E

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

Congenital disorders caused by aberrations in the biosynthesis of chondroitin/dermatan sulfate.

Mikami T et al.

Journal of Human Genetics, 2025

Altered sulfation status of FAM20C-dependent chondroitin sulfate is associated with osteosclerotic bone dysplasia.

Koike T et al.

Nature Communications, 2022

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

Palma-Lara I et al.

International Journal of Molecular Sciences, 2021

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

Eltan M et al.

Calcified Tissue International, 2020

Two Novel FAM20C Variants in A Family with Raine Syndrome.

Hernández-Zavala A et al.

Genes, 2020

Systematic analysis of the intersection of disease mutations with protein modifications.

Simpson CM et al.

Bmc Medical Genomics, 2019

31345222 (PubMed )
Supplement: 12920_2019_543_MOESM6_ESM.xlsx › S5C

FAM20A mutations associated with enamel renal syndrome.

Wang SK et al.

Journal of Dental Research, 2014

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."