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Article

Intra- and Interfamilial Phenotype Variability Associated with Mutations in γ-Secretase Subunit-Encoding PSENEN.

The Journal of investigative dermatology - 1 May 2018

Frank Jorge, Ralser Damian J, Betz Regina C

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Share to Amyloid Precursor Protein Secretases
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 29138052
DOI: 10.1016/j.jid.2017.09.050

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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Intra- and Interfamilial Phenotype Variability Associated with Mutations in γ-Secretase Subunit-Encoding PSENEN.PMID 29138052Read ↗

Comorbidities or different entities? Phenotype variability associated with PSENEN mutations.Semantic proximity Read ↗

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γ-Secretase Genetics of Hidradenitis Suppurativa: A Systematic Literature Review.Semantic proximity Read ↗

Gamma-secretase gene mutations in familial acne inversa.Semantic proximity Read ↗

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

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

Functional and topological analysis of PSENEN, the fourth subunit of the γ-secretase complexSemantic proximity Read ↗

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