Varaico: Literature-Extracted Genetic Variants

Gene:PSENEN
Variant:p.L98fs
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PSENEN

NM_172341.4:p.L98fs

Associated Papers

Beneath the surface: delineating the subtypes of Dowling-Degos disease.

Kumar S et al.

The British Journal of Dermatology, 2025

Comprehensive Catalog of Variants Potentially Associated with Hidradenitis Suppurativa, Including Newly Identified Variants from a Cohort of 100 Patients.

Muret K et al.

International Journal of Molecular Sciences, 2024

Scrotal Dowling-Degos disease caused by a novel frameshift variant in gamma-secretase subunit presenile enhancer gene.

Ren J et al.

The Australasian Journal of Dermatology, 2020

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