Varaico: Literature-Extracted Genetic Variants

Gene:FAM20C
Variant:p.D446N
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FAM20C

NM_020223.4:p.D446N

Associated Papers

Mutant Fam20c knock-in mice recapitulate both lethal and non-lethal human Raine Syndrome.

Chen M et al.

Bmc Molecular and Cell 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

The Raine syndrome protein FAM20C is a Golgi kinase that phosphorylates bio-mineralization proteins.

Ishikawa HO et al.

Plos One, 2012

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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."