Varaico: Literature-Extracted Genetic Variants

Gene:PKP1
Variant:p.G352Splc
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PKP1

NM_001005337.3:p.G352Splc

Associated Papers

The Position of Targeted Next-generation Sequencing in Epidermolysis Bullosa Diagnosis.

Has C et al.

Acta Dermato-venereologica, 2018

Ectodermal dysplasia-skin fragility syndrome due to a new homozygous internal deletion mutation in the PKP1 gene.

Boyce AE et al.

The Australasian Journal of Dermatology, 2012

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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."