Varaico: Literature-Extracted Genetic Variants

Gene:FAM20C
Variant:p.G365S
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FAM20C

NM_020223.4:p.G365S

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

Compound heterozygous FAM20C gene variants in a patient with severe Raine syndrome: a case report.

Chirteș C et al.

Frontiers in Genetics, 2023

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

Whole-exome mutational landscape of neuroendocrine carcinomas of the gallbladder.

Liu F et al.

Signal Transduction and Targeted Therapy, 2021

33563892 (PubMed )
Supplement: 41392_2020_412_MOESM16_ESM.xlsx › Supplementary_Table_S15

A case of Raine syndrome presenting with facial dysmorphy and review of literature.

Sheth J et al.

Bmc Medical Genetics, 2018

Mutations in FAM20C are associated with lethal osteosclerotic bone dysplasia (Raine syndrome), highlighting a crucial molecule in bone development.

Simpson MA et al.

American Journal of Human Genetics, 2007

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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."