Varaico: Literature-Extracted Genetic Variants

Gene:FAM20C
Variant:p.L388R
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FAM20C

NM_020223.4:p.L388R

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

Mutations of family with sequence similarity 20-member C gene causing lethal and nonlethal Raine syndrome causes hypophosphatemia rickets.

Liu P et al.

Journal of Cellular Physiology, 2023

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

Exome sequencing reveals FAM20c mutations associated with fibroblast growth factor 23-related hypophosphatemia, dental anomalies, and ectopic calcification.

Rafaelsen SH et al.

Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2013

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."