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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:KRT5

Variant:p.S28_R29insFs

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KRT5

NM_000424.4:p.S28_R29insFs

hg38:chr12:52520213 G>GA

Associated Papers

Mutations in γ-secretase subunit-encoding PSENEN underlie Dowling-Degos disease associated with acne inversa.

Ralser DJ et al.

The Journal of Clinical Investigation, 2017

28287404 (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."