Varaico: Literature-Extracted Genetic Variants

Gene:NCSTN
Variant:p.P93delFs
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NCSTN

NM_015331.3:p.P93delFs

Associated Papers

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

39408704 (PubMed )
Supplement: ijms-25-10374-s001.zip › ijms-3168929_Supplementary_Fig___Tables.pdf

Genetic factors associated with hidradenitis suppurativa, a literature review.

Eble SM et al.

International Journal of Women's Dermatology, 2024

Hidradenitis Suppurativa-Related Autoinflammatory Syndromes: An Updated Review on the Clinics, Genetics, and Treatment of Pyoderma gangrenosum, Acne and Suppurative Hidradenitis (PASH), Pyogenic Arthritis, Pyoderma gangrenosum, Acne and Suppurative Hidradenitis (PAPASH), Synovitis, Acne, Pustulosis, Hyperostosis and Osteitis (SAPHO), and Rarer Forms.

Maronese CA et al.

Dermatologic Clinics, 2024

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

Vellaichamy G et al.

The Journal of Investigative Dermatology, 2021

A novel nicastrin mutation in a three-generation Dutch family with hidradenitis suppurativa: a search for functional significance.

Vossen ARJV et al.

Journal of the European Academy of Dermatology and Venereology : Jeadv, 2020

32078194 (PubMed )
Supplement: JDV-34-2353-s001.docx

A novel NCSTN gene mutation in a Chinese family with acne inversa.

Wu C et al.

Molecular Genetics and Genomics : Mgg, 2018

Is SAPHO Syndrome Linked to PASH Syndrome and Hidradenitis Suppurativa by Nicastrin Mutation? A Case Report.

Li C et al.

The Journal of Rheumatology, 2018

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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."