Varaico: Literature-Extracted Genetic Variants

Gene:PKP1
Variant:p.E618delFs
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PKP1

NM_001005337.3:p.E618delFs

Associated Papers

Clinical Spectrum and Genetic Variability in Ectodermal Dysplasia-Skin Fragility Syndrome.

Gupta M et al.

Indian Dermatology Online Journal, 2025

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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."