Varaico: Literature-Extracted Genetic Variants

Gene:NCSTN
Variant:p.Q393_V394Splc
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NCSTN

NM_015331.3:p.Q393_V394Splc

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

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

Vellaichamy G et al.

The Journal of Investigative Dermatology, 2021

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

Wu J et al.

Annals of Dermatology, 2020

A systematic review and critical evaluation of reported pathogenic sequence variants in hidradenitis suppurativa.

Frew JW et al.

The British Journal of Dermatology, 2017

Absence of pathogenic γ-secretase mutations in a South Wales cohort of familial and sporadic hidradenitis suppurativa (acne inversa).

Ingram JR et al.

The British Journal of Dermatology, 2013

Genetic study of Sardinian patients with Alzheimer's disease.

Piscopo P et al.

Neuroscience Letters, 2006

The gene encoding nicastrin, a major gamma-secretase component, modifies risk for familial early-onset Alzheimer disease in a Dutch population-based sample.

Dermaut B et al.

American Journal of Human Genetics, 2002

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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."