Varaico: Literature-Extracted Genetic Variants

Gene:PSEN1
Variant:p.L22_S23insFs
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PSEN1

NM_000021.4:p.L22_S23insFs

Associated Papers

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

Vellaichamy G et al.

The Journal of Investigative Dermatology, 2021

In silico Analysis of Gamma-Secretase-Complex Mutations in Hidradenitis Suppurativa Demonstrates Disease-Specific Substrate Recognition and Cleavage Alterations.

Frew JW et al.

Frontiers in Medicine, 2019

31608281 (PubMed )
Supplement: Data_Sheet_3.PDF

γ-Secretase mutations in hidradenitis suppurativa: new insights into disease pathogenesis.

Pink AE et al.

The Journal of Investigative Dermatology, 2013

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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."