Varaico: Literature-Extracted Genetic Variants

Gene:PKP1
Variant:p.R378insFs
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PKP1

NM_001005337.3:p.R378insFs

Associated Papers

Plakophilin 1: an important stabilizer of desmosomes.

South AP

Clinical and Experimental Dermatology, 2004

Homozygous splice site mutations in PKP1 result in loss of epidermal plakophilin 1 expression and underlie ectodermal dysplasia/skin fragility syndrome in two consanguineous families.

Sprecher E et al.

The Journal of Investigative Dermatology, 2004

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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."