Varaico: Literature-Extracted Genetic Variants

Gene:EPS8
Variant:p.A343insFs
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EPS8

NM_004447.6:p.A343insFs

Associated Papers

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

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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."