Varaico: Literature-Extracted Genetic Variants

Gene:FAM20C
Variant:p.D451N
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FAM20C

NM_020223.4:p.D451N

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

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

Potential Role of Protein Kinase FAM20C on the Brain in Raine Syndrome, an In Silico Analysis.

Palma-Lara I et al.

International Journal of Molecular Sciences, 2023

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

Palma-Lara I et al.

International Journal of Molecular Sciences, 2021

Recurrent variant c.1680C>A in FAM20C gene and genotype-phenotype correlation in a patient with Raine syndrome: a case report.

Bajaj S et al.

Bmc Pediatrics, 2021

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

Eltan M et al.

Calcified Tissue International, 2020

Natural history of non-lethal Raine syndrome during childhood.

Mameli C et al.

Orphanet Journal of Rare Diseases, 2020

Hypophosphatemic osteomalacia and bone sclerosis caused by a novel homozygous mutation of the FAM20C gene in an elderly man with a mild variant of Raine syndrome.

Takeyari S et al.

Bone, 2014

Functional analysis of mutant FAM20C in Raine syndrome with FGF23-related hypophosphatemia.

Kinoshita Y et al.

Bone, 2014

FAM20A mutations associated with enamel renal syndrome.

Wang SK et al.

Journal of Dental Research, 2014

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."