Varaico: Literature-Extracted Genetic Variants

Gene:PNPLA1
Variant:p.G130R
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PNPLA1

NM_001374623.1:p.G130R

Associated Papers

Progressive symmetric erythrokeratoderma associated with biallelic PNPLA1 variants.

Jiang X et al.

The British Journal of Dermatology, 2026

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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."