Varaico: Literature-Extracted Genetic Variants

Gene:FDPS
Variant:p.D146E
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FDPS

NM_002004.4:p.D146E

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

Two Novel and Three Recurrent Mutations in the Mevalonate Pathway Genes in Chinese Patients with Porokeratosis.

Wang X et al.

Clinical, Cosmetic and Investigational Dermatology, 2024

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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."