Varaico: Literature-Extracted Genetic Variants

Gene:DSP
Variant:p.Y296delFs
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DSP

NM_004415.4:p.Y296delFs

Associated Papers

Ectodermal dysplasia-skin fragility syndrome resulting from a new homozygous mutation, 888delC, in the desmosomal protein plakophilin 1.

Ersoy-Evans S et al.

Journal of the American Academy of Dermatology, 2006

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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