Varaico: Literature-Extracted Genetic Variants

Gene:FAM20C
Variant:p.G266R
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FAM20C

NM_020223.4:p.G266R

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

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

Eras N et al.

Molecular Syndromology, 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 case of Raine syndrome presenting with facial dysmorphy and review of literature.

Sheth J et al.

Bmc Medical Genetics, 2018

Raine syndrome: an overview.

Faundes V et al.

European Journal of Medical Genetics, 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

Mutations in FAM20C also identified in non-lethal osteosclerotic bone dysplasia.

Simpson MA et al.

Clinical Genetics, 2009

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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."