Varaico: Literature-Extracted Genetic Variants

Gene:FAM20C
Variant:p.W407G
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FAM20C

NM_020223.4:p.W407G

Associated Papers

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

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

Eltan M et al.

Calcified Tissue International, 2020

Fetal ultrasonographic findings including cerebral hyperechogenicity in a patient with non-lethal form of Raine syndrome.

Tamai K et al.

American Journal of Medical Genetics. Part A, 2018

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."