Varaico: Literature-Extracted Genetic Variants

Gene:FAM20C
Variant:p.R510C
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FAM20C

NM_020223.4:p.R510C

Associated Papers

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

Genomic study of severe fetal anomalies and discovery of GREB1L mutations in renal agenesis.

Boissel S et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 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."