Varaico: Literature-Extracted Genetic Variants

Gene:NCSTN
Variant:p.S206*
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NCSTN

NM_015331.3:p.S206*

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

Genetic factors associated with hidradenitis suppurativa, a literature review.

Eble SM et al.

International Journal of Women's Dermatology, 2024

Management of patients with hidradenitis suppurativa having underlying genetic variation: a systematic review and a call for precision medicine.

Mintoff D et al.

Clinical and Experimental Dermatology, 2023

Effects of NCSTN Mutation on Hair Follicle Components in Mice.

Shi TW et al.

Dermatology (basel, Switzerland), 2023

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

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

Novel Mutation of the NCSTN Gene Identified in a Chinese Acne Inversa Family.

Wu J et al.

Annals of Dermatology, 2020

A gene dysfunction module reveals the underlying pathogenesis of hidradenitis suppurativa: An update.

Li X et al.

The Australasian Journal of Dermatology, 2020

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."