Varaico: Literature-Extracted Genetic Variants

Gene:FDPS
Variant:p.R258Splc
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FDPS

NM_002004.4:p.R258Splc

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

A novel premature termination mutation in FDPS in a Chinese family with disseminated superficial actinic porokeratosis.

Zhu PQ et al.

The British Journal of Dermatology, 2019

Mutations in the mevalonate pathway genes in Chinese patients with porokeratosis.

Li M et al.

Journal of the European Academy of Dermatology and Venereology : Jeadv, 2016

Mutation Analysis of the MVD Gene in a Chinese Family with Disseminated Superficial Actinic Porokeratosis and a Chinese Literature Review.

Qian W et al.

Indian Journal of Dermatology, 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."