Varaico: Literature-Extracted Genetic Variants

Gene:PKP3
Variant:p.D296delFs
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PKP3

NM_007183.4:p.D296delFs

Associated Papers

Ectodermal dysplasia-skin fragility syndrome resulting from a new homozygous mutation, 888delC, in the desmosomal protein plakophilin 1.

Ersoy-Evans S et al.

Journal of the American Academy of Dermatology, 2006

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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."