Varaico: Literature-Extracted Genetic Variants

Gene:PSENEN
Variant:p.G22E
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PSENEN

NM_172341.4:p.G22E

Associated Papers

Pathogenic variants in PSENEN and NCSTN genes cause 'follicular' Dowling-Degos disease: Report of five unrelated Indian families.

Gupta V et al.

Indian Journal of Dermatology, Venereology and Leprology, 2025

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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."