Varaico: Literature-Extracted Genetic Variants

Gene:PSENEN
Variant:p.R39*
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PSENEN

NM_172341.4:p.R39*

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

Insights from γ-Secretase: Functional Genetics of Hidradenitis Suppurativa.

Vellaichamy G et al.

The Journal of Investigative Dermatology, 2021

γ-Secretase Genetics of Hidradenitis Suppurativa: A Systematic Literature Review.

Wang Z et al.

Dermatology (basel, Switzerland), 2021

Comorbidities or different entities? Phenotype variability associated with PSENEN mutations.

Li W et al.

The British Journal of Dermatology, 2019

PSENEN Mutation Carriers with Co-manifestation of Acne Inversa (AI) and Dowling-Degos Disease (DDD): Is AI or DDD the Subphenotype?

Li C et al.

The Journal of Investigative Dermatology, 2017

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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