Varaico: Literature-Extracted Genetic Variants

Gene:FDPS
Variant:p.R179W
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FDPS

NM_002004.4:p.R179W

Associated Papers

Identification of two novel MVD mutations and one novel FDPS mutation in Chinese patients with porokeratosis.

He Y et al.

Frontiers in Medicine, 2026

Novel missense mutations of MVK and FDPS gene in Chinese patients with disseminated superficial actinic porokeratosis.

Li L et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2021

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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."