Varaico: Literature-Extracted Genetic Variants

Gene:APH1B
Variant:p.H170R
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APH1B

NM_031301.4:p.H170R

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

Interpreting the spectrum of gamma-secretase complex missense variation in the context of hidradenitis suppurativa-An in-silico study.

Mintoff D et al.

Frontiers in Genetics, 2022

Full exome sequencing of 11 families with Hidradenitis suppurativa.

Theut Riis P et al.

Journal of the European Academy of Dermatology and Venereology : Jeadv, 2021

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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."