Varaico: Literature-Extracted Genetic Variants

Gene:PNPLA1
Variant:p.A50E
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PNPLA1

NM_001374623.1:p.A50E

Associated Papers

A standardized approach to test missense PNPLA1 rare genetic variants of uncertain significance in epidermal differentiation disorders.

Pell N et al.

Jid Innovations : Skin Science From Molecules to Population Health, 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."