Varaico: Literature-Extracted Genetic Variants

Gene:NCSTN
Variant:p.T115N
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NCSTN

NM_015331.3:p.T115N

Associated Papers

Genetic factors associated with hidradenitis suppurativa, a literature review.

Eble SM et al.

International Journal of Women's Dermatology, 2024

Molecular analysis of inflammatory diseases.

Almughrbi AH et al.

Experimental Dermatology, 2022

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

PSTPIP1 gene mutation in a pyoderma gangrenosum, acne and suppurative hidradenitis (PASH) syndrome.

Calderón-Castrat X et al.

The British Journal of Dermatology, 2016

First nicastrin mutation in PASH (pyoderma gangrenosum, acne and suppurative hidradenitis) syndrome.

Duchatelet S et al.

The British Journal of Dermatology, 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."