Varaico: Literature-Extracted Genetic Variants

Gene:PSENEN
Variant:p.L29fs
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PSENEN

NM_172341.4:p.L29fs

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

Mutations in γ-secretase subunit-encoding PSENEN underlie Dowling-Degos disease associated with acne inversa.

Ralser DJ et al.

The Journal of Clinical Investigation, 2017

An Updated Mutation Spectrum of the γ-Secretase Complex: Novel NCSTN Gene Mutation in an Indian Family with Hidradenitis Suppurativa and Acne Conglobata.

Ratnamala U et al.

Indian Journal of Dermatology, 0

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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."