Varaico: Literature-Extracted Genetic Variants

Gene:PKP1
Variant:p.G68delFs
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PKP1

NM_001005337.3:p.G68delFs

Associated Papers

Skin fragility and hypohidrotic ectodermal dysplasia resulting from ablation of plakophilin 1.

McGrath JA et al.

The British Journal of Dermatology, 1999

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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."