Varaico: Literature-Extracted Genetic Variants

Gene:AAGAB
Variant:p.L166fs
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AAGAB

NM_024666.5:p.L166fs

Associated Papers

Punctate palmoplantar keratoderma type 1 with a novel AAGAB frameshift mutation: intrafamilial phenotype variation due to ageing.

Kono M et al.

Journal of the European Academy of Dermatology and Venereology : Jeadv, 2017

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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."