Varaico: Literature-Extracted Genetic Variants

Gene:SERPINB7
Variant:p.F185V
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SERPINB7

NM_003784.4:p.F185V

Associated Papers

A deep intronic founder variant in the SERPINB7 gene causing aberrant splicing is a potential therapeutic target for Nagashima-type palmoplantar keratoderma.

Chen Y et al.

Journal of Dermatological Science, 2025

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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."