Varaico: Literature-Extracted Genetic Variants

Gene:PSENEN
Variant:p.I77insFs
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PSENEN

NM_172341.4:p.I77insFs

Associated Papers

Mutations in γ-secretase subunit-encoding PSENEN gene alone may not be sufficient for the development of acne inversa.

Zhou P et al.

Journal of Dermatological Science, 2021

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

Successful treatment of early-onset hidradenitis suppurativa with acitretin in an infant with a novel mutation in PSENEN gene.

Chen AW et al.

Indian Journal of Dermatology, Venereology and Leprology, 0

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."