Varaico: Literature-Extracted Genetic Variants

Gene:AP1S3
Variant:p.Q17K
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AP1S3

NM_001039569.2:p.Q17K

Associated Papers

AP1S3 mutations are associated with pustular psoriasis and impaired Toll-like receptor 3 trafficking.

Setta-Kaffetzi N et al.

American Journal of Human Genetics, 2014

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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."