Varaico: Literature-Extracted Genetic Variants

Gene:PKP1
Variant:p.N300fs
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PKP1

NM_001005337.3:p.N300fs

Associated Papers

Ectodermal dysplasia-skin fragility syndrome: Two new cases and review of this desmosomal genodermatosis.

Doolan BJ et al.

Experimental Dermatology, 2020

Ectodermal dysplasia-skin fragility syndrome - identification of a novel plakophilin1 (PKP1) gene variant through whole exome sequencing.

Chandra Konda S et al.

Indian Journal of Dermatology, Venereology and Leprology, 0

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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."