Varaico: Literature-Extracted Genetic Variants

Gene:SPINK5
Variant:p.E827*
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SPINK5

NM_006846.4:p.E827*

Associated Papers

Dysregulated proteolytic cascades in Netherton syndrome: from molecular pathology to preclinical drug testing.

Zingkou E et al.

The Journal of Pathology, 2026

Lethal, neonatal ichthyosis with increased proteolytic processing of filaggrin in a mouse model of Netherton syndrome.

Hewett DR et al.

Human Molecular Genetics, 2005

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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."