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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:AP1S3

Variant:p.R42delFs

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AP1S3

NM_001039569.2:p.R42delFs

hg38:chr2:223777748 CG>C

Associated Papers

AP1S3 Mutations Cause Skin Autoinflammation by Disrupting Keratinocyte Autophagy and Up-Regulating IL-36 Production.

Mahil SK et al.

The Journal of Investigative Dermatology, 2016

27388993 (PubMed )

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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."