Varaico: Literature-Extracted Genetic Variants

Gene:PSENEN
Variant:p.R84_W85insT
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PSENEN

NM_172341.4:p.R84_W85insT

Associated Papers

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

Vellaichamy G et al.

The Journal of Investigative Dermatology, 2021

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

Li W et al.

The British Journal of Dermatology, 2019

Abstracts of the 7th European Hidradenitis Suppurativa Foundation (EHSF) Congress, 7-9 February 2018, Rotterdam, The Netherlands.

Unknown Author

Experimental Dermatology, 2018

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

Novel Mutations in PSENEN Gene in Two Chinese Acne Inversa Families Manifested as Familial Multiple Comedones and Dowling-Degos Disease.

Zhou C et al.

Chinese Medical Journal, 2016

A Frameshift Mutation in PEN-2 Causes Familial Comedones Syndrome.

Panmontha W et al.

Dermatology (basel, Switzerland), 2015

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."