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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:FAM20C

Variant:p.R459C

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FAM20C

NM_020223.4:p.R459C

hg38:chr7:257016 C>T

Associated Papers

An Uncommon Case of Hypophosphataemia-Non-Lethal Raine Syndrome With Novel FAM20C Variant: Expanding the Phenotypic Spectrum.

Au CW et al.

American Journal of Medical Genetics. Part A, 2026

41174912 (PubMed )

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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."