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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SERPINA12

Variant:p.N221fs

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SERPINA12

NM_001382267.1:p.N221fs

hg38:chr14:94496617 ATT>N

Associated Papers

A novel SERPINA12 variant and first European patients with diffuse palmoplantar keratoderma.

Brandt E et al.

Journal of the European Academy of Dermatology and Venereology : Jeadv, 2024

37684051 (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."